syndrome

syndrome (sin´drom)

The aggregate of signs and symptoms associated with any morbid process, and constituting together the picture of the disease. See also disease. [G. syndrome, a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn, together, + dromos, a running]
Aarskog-Scott s.faciodigitogenital dysplasia
abdominal muscle deficiency s. [MIM*100100, MIM*264140] congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear.
abstinence s.a constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence s. varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal s. from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence s. depend upon how rapidly the drug disappears from the body.
Achard s. [MIM*100700] arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear.
Achard-Thiers s.one form of a virilizing disorder of adrenocortical origin in women, characterized by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria.
Achenbach s.hematoma of the finger pad with accompanying edema; of unknown cause in the absence of disturbances in blood coagulation mechanisms.
acquired immunodeficiency s.AIDS
acrofacial s.acrofacial dysostosis
acroparesthesia s.abnormal sensation such as numbness and tingling in the hands, usually in middle-aged women; classic symptom of carpal tunnel syndrome.
acute organic brain s.organic brain s
acute radiation s.a s. caused by exposure of the body to large amounts of radiation, (e.g., from certain forms of therapy, accidents, and nuclear explosions; it is divided into three major forms which are, in ascending order of severity, the hematogic, gastrointestinal, and central nervous system-cardiovascular forms; its clinical manifestations are divided into prodromal, latent, overt, and recovery stages.
Adams-Stokes s.a s. characterized by slow or absent pulse, vertigo, syncope, convulsions, and sometimes Cheyne-Stokes respiration; usually as a result of advanced A-V block or sick sinus syndrome.Adams-Stokes disease, Morgagni's disease, Morgagni-Adams-Stokes s., Spens' s., Stokes-Adams disease, Stokes-Adams s;
adaptation s. of Selyegeneral nonspecific adaptation of the organism in response to specific stimuli which trigger a cycle of extensive physiological changes in the endocrine and other organ systems due to prolonged and intense stress. See general adaptation s.
addisonian s.chronic adrenocortical insufficiency
adherence s.restriction action of an ocular muscle owing to adhesions between the muscle and its fascial sheath.
Adie s. [MIM*100300] an idiopathic postganglionic denervation of the parasympathetically innervated intraocular muscles, usually complicated by signs of aberrant regeneration of these nerves: a weak light reaction with segmental palsy of iris sphincter, a strong slow near response. Deep tendon reflexes are often asymmetrically reduced. See also tonic pupil.Adie's pupil, Holmes-Adie pupil, Holmes-Adie s., pupillotonic pseudotabes;
adiposogenital s.dystrophia adiposogenitalis
adrenal cortical s.an inexact (and obsolete) term that has been applied to Cushing's s., Addison's disease, or the adrenogenital s.
adrenal virilizing s.adrenal virilism
adrenogenital s.generic designation for a group of disorders caused by adrenocortical hyperplasia or malignant tumors and characterized by masculinization of women, feminization of men, or precocious sexual development of children; representative of excessive or abnormal secretory patterns of adrenocortical steroids, especially those with androgenic or estrogenic effects.
adult respiratory distress s. (ARDS) acute lung injury from a variety of causes, characterized by interstitial and/or alveolar edema and hemorrhage as well as perivascular pulmonary edema associated with hyaline membrane, proliferation of collagen fibers, and swollen epithelium with increased pinocytosis.wet lung (2) , white lung;
afferent loop s.acute or chronic obstruction of the duodenum and jejunum proximal to the gastrojejunostomy performed in a Billroth II type gastrectomy; a distended afferent loop causes symptoms of pain and fullness.gastrojejunal loop obstruction s;
aglossia-adactylia s. [MIM*103300] congenital absence or hypoplasia of the tongue, associated with absence of the digits.
Ahumada-Del Castillo s.unphysiological lactation and amenorrhea not following pregnancy characterized by hyperprolactinemia and a pituitary adenoma.Argonz-Del Castillo s;
Aicardi's s. [MIM*304050] agenesis of the corpus collosum with infantile spasms in female babies.
Albright's s. 1. McCune-Albright s 2. Albright's hereditary osteodystrophy
alcohol amnestic s.an amnestic s. resulting from alcoholism; alcoholic "blackouts." Cf. Korsakoff's s.
Aldrich s.Wiskott-Aldrich s
Alezzandrini's s.a rare s. appearing in adolescents and young adults, characterized by unilateral degenerative retinitis, followed by ipsilateral poliosis and facial vitiligo, and occasionally bilateral perceptive deafness.
Alice in Wonderland s.the illusion of dreams, feelings of levitation, and alteration in the sense of the passage of time, sometimes associated with migraine, epilepsy, and various diseases of the parietal lobe of the brain.
Allen-Masters s.pelvic pain resulting from an old laceration of the broad ligament received during delivery.
Alport's s.progressive microscopic hematuria leading to chronic renal failure earlier in males, accompanied by defects such as sensorineural hearing loss, lenticonus, and maculopathy; autosomal dominant [MIM*153640 and 153650], autosomal recessive [MIM*203800], and X-linked [MIM*301050 and *303630] forms known.
Alström's s. [MIM*203800] retinal degeneration with nystagmus and loss of central vision, associated with obesity in childhood; sensorineural hearing loss and diabetes mellitus usually occur after age 10; autosomal recessive inheritance.
amenorrhea-galactorrhea s.unphysiologic lactation from endocrinological causes or from a pituitary tumor.
amnestic s. 1. Korsakoff's s 2. an organic brain s. with short term (but not immediate) memory disturbance, regardless of the etiology.
amniotic fluid s.pulmonary embolic phenomena thought to be due to infusion of amniotic fluid containing epithelial squames into maternal blood vessels; shock ensues and sudden death may occur.
Amsterdam s.de Lange s [Amsterdam, the Netherlands]
androgen resistance s.'sa class of disorders associated with 5a-steroid reductase deficiency, testicular feminization, and related disorders. Cf. steroid 5a-reductase, Reifenstein's s., infertile male s., testicular feminization s.
Angelman s.microdeletion of 15 q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech. See Prader-Willi s.
Angelucci's s.extreme excitability, vasomotor disturbances, and palpitation associated with vernal conjunctivitis.
angio-osteohypertrophy s.Klippel-Trenaunay-Weber s
ankyloglossia superior s.a congenital condition in which the tongue adheres to the hard palate; no evidence of genetic factors.
anorectal s.soreness, burning, itching, or other irritation of the rectum together with redness about the anus, and sometimes accompanied by diarrhea, occurring as a toxic effect of the oral administration of certain broad spectrum antibiotics.
anterior chamber cleavage s. [MIM*261540] a congenital disorder originating from faulty separation of embryonic structures; it results in bilateral central corneal opacities, with an anterior ring attachment of the iridic pupillary border and anterior polar cataracts; associated with short-limbed dwarfism; autosomal dominant inheritance. See iridocorneal endothelial s.Peters' anomaly;
anterior tibial compartment s.ischemic necrosis of the muscles of the anterior tibial compartment of the leg, presumed due to compression of arteries by swollen muscles following unaccustomed exertion.
antibody deficiency s.any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms. See agammaglobulinemia, hypogammaglobulinemia, immunodeficiency.antibody deficiency disease;
Anton's s.in cortical blindness, lack of awareness of being blind.
anxiety s.the constellation of autonomic nervous system signs and symptoms accompanying the apprehension of danger and dread. See anxiety.
aortic arch s.atheromatous and/or thrombotic obliteration of the branches of the arch of the aorta leading to diminished or absent pulses in the neck and arms. See also Takayasu's arteritis, reversed coarctation.Martorell's s;
apallic s.apallic state
Apert's s.acrocephalosyndactyly
s. of approximate relevant answersGanser's s
Argonz-Del Castillo s.Ahumada-Del Castillo s
Arndt-Gottron s.scleromyxedema
Arnold-Chiari s.Arnold-Chiari malformation
arterial thoracic outlet s.a rare disorder due to compression of the subclavian artery (with resultant poststenotic dilation) by a fully formed cervical rib; thrombi form in the dilated distal arterial segment, and distal limb ischemia may occur due to thromboembolic events.
Ascher's s. [MIM*109900] a condition in which a congenital double lip is associated with blepharochalasis and nontoxic thyroid gland enlargement.
Asherman's s.synechiae within the endometrial cavity, often causing amenorrhea and infertility.
asplenia s.s. seen in patients who had no functional spleen, either due to surgical removal of disease (e.g., sickle cell anemia); includes increased susceptibility to bacterial infection, especially pneumococcal infection.
ataxia telangiectasia s.ataxia telangiectasia
auriculotemporal nerve s.localized flushing and sweating of the ear and cheek in response to eating.Frey's s., gustatory sweating s;
autoerythrocyte sensitization s.a condition, usually occurring in women, in which the individual bruises easily (purpura simplex) and the ecchymoses tend to enlarge and involve adjacent tissues, resulting in pain in the affected parts; so-called because similar lesions are produced by inoculation of the individual's blood or various components of red blood cells and it is thought to be a form of localized autosensitization, although no specific antibodies have been demonstrable; in some individuals, there seems to be a psychogenic mechanism.Gardner-Diamond s., psychogenic purpura;
Avellis' s.unilateral paralysis of the larynx and velum palati, with contralateral loss of pain and temperature sensibility in the parts below.jugular foramen s;
A-V strabismus s.strabismus in which the angle of deviation is more marked on looking upward or downward. See also A-esotropia, V-esotropia, A-exotropia, V-exotropia.
Ayerza's s.sclerosis of the pulmonary arteries in chronic cor pulmonale; associated with severe cyanosis, it is a condition resembling polycythemia vera but resulting from primary pulmonary arteriosclerosis or primary pulmonary hypertension and characterized by plexiform lesions of arterioles.Ayerza's disease, cardiopathia nigra, plexogenic pulmonary arteriopathy;
Babinski's s.the combination of cardiac, arterial, and central nervous system manifestations of late syphilis.
baby bottle s.nursing bottle caries
Balint's s.an entity characterized by optic ataxia and simultanagnosia. This difficulty in applying the visual system to a visual task is usually due to damage to the superior temporal-occipital areas in both hemispheres.
Bamberger-Marie s.hypertrophic pulmonary osteoarthropathy
Bannwarth's s.neurologic manifestations of Lyme disease, also called chronic lymphocytic meningitis and tick-borne meningopolyneuritis.
Banti's s.chronic congestive splenomegaly that occurs primarily in children as a sequel to hypertension in the portal or splenic veins, usually as a result of thrombosis of the veins; anemia, splenomegaly, and irregular episodes of gastrointestinal bleeding are usually observed, with ascites, jaundice, leukopenia, and thrombocytopenia developing in various conbinations.Banti's disease, splenic anemia;
Bardet-Biedl s. [MIM*209900] mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism; recessive inheritance. See also Laurence-Moon-Biedl s.
bare lymphocyte s.absence of HLA antigens on peripheral mononuclear cells, which may result in immunodeficiency.
Barlow s. [MIM*157700] late apical systolic murmur or (so-called "mid-late") systolic click, or both, due to massive billowing of the anterior and/or posterior (mural) mitral valvular leaflet into the left atrial cavity (also, floppy valve s.); electrocardiographically, ST-T changes in a posteroinferior distribution resembling those of myocardial ischemia often coexist for unknown reasons; rhythm disturbances may coexist with this s. without demonstrable pathogenetic relationship.
Barrett's s.chronic peptic ulceration of the lower esophagus, which is lined by columnar epithelium, resembling the mucosa of the gastric cardia, acquired as a result of long-standing chronic esophagitis; esophageal stricture with reflux, and adenocarcinoma, also have been reported.Barrett's esophagus;
Bart's s. [MIM*132000] a form of epidermolysis bullosa with blistering of the extremities and intertriginous areas, erosions of the mouth, and deformed nails; probably autosomal dominant; there is often spontaneous improvement with no residual scarring.
Bartter's s. [MIM*241200] primary juxtaglomerular cell hyperplasia with secondary hyperaldosteronism, reported in children with hypokalemic alkalosis and elevated renin or angiotensin levels; however, the blood pressure is low or normal, edema is absent, and growth is usually retarded; recessive inheritance.
basal cell nevus s. [MIM*109400] a s. of myriad basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts, erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominant inheritance.Gorlin's s;
Basan's s.ectodermal dysplasia with hypotrichosis, hypohidrosis, defective teeth, and unusual dermatoglyphics.
Bassen-Kornzweig s.abetalipoproteinemia
battered child s.the clinical presentation of child abuse: various injuries to the skeleton, soft tissues, or organs of a child sustained as a result of repeated mistreatment or beating, usually by an individual responsible for the child's care.
battered spouse s.physical, psychological, and emotional injuries in a person subjected to abuse by a spouse or domestic partner; usually associated with alcoholism in the abusing spouse.
Bauer's s.aortitis and aortic endocarditis as a little recognized manifestation of rheumatoid arthritis.
Bazex's s.erythematous to plum-colored scaly acral skin lesions, paronychia, and nail dysplasia; associated with cancer of the upper respiratory or upper alimentary tract.paraneoplastic acrokeratosis;
Beckwith-Wiedemann s. [MIM*130650] exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; autosomal recessive inheritance.EMG s;
Behçet's s. [MIM*109650] a s. characterized by simultaneously or successively occurring recurrent attacks of genital and oral ulcerations (aphthae) and uveitis or iridocyclitis with hypopyon, often with arthritis; a phase of a generalized disorder, occurring more often in men than in women, with variable manifestations, including dermatitis, erythema nodosum, thrombophlebitis, and cerebral involvement.Behçet's disease, cutaneomucouveal s., iridocyclitis septica, oculobuccogenital s., recurrent hypopyon, triple symptom complex, uveo-encephalitic s;
Behr's s. [MIM*210000] adult or presenile form of heredomacular degeneration.Behr's disease;
Benedikt's s.hemiplegia with clonic spasm or tremor and oculomotor paralysis on the opposite side.
Beradinelli's s.accelerated growth, lipodystrophy with muscular hypertrophy, hepatomegaly, and lipemia.
Bernard-Horner s.Horner's s
Bernard-Sergent s.acute adrenocortical insufficiency
Bernard-Soulier s.a coagulation disorder characterized by thrombocytopenia, giant platelets, and a bleeding tendency.
Bernhardt-Roth s.meralgia paraesthetica
Bernheim's s.systemic congestion resembling the consequences of right heart failure (enlarged liver, distended neck veins, and edema) without pulmonary congestion in subjects with left ventricular enlargement from any cause; reduction in the size of the right ventricular cavity is found by contrast imaging or echocardiography or at postmortem due to encroachment by the hypertrophied or aneurysmal ventricular septum.
Besnier-Boeck-Schaumann s.sarcoidosis
Beuren s.supravalvular aortic stenosis with multiple areas of peripheral pulmonary arterial stenosis, mental retardation, and dental anomalies.
Biemond s. [MIM*210350] iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly; a recessive inheritance disorder resembling Laurence-Moon and Bardet-Biedel s.'s.
billowing mitral valve s.mitral valve prolapse s
Bjornstad's s. [mim*262000] pili torti associated with sensorineural hearing loss, the severity of distortion and brittleness of the hair correlated with the degree of deafness; autosomal dominant inheritance.
Blatin's s.hydatid thrill
blind loop s.stagnation of intestinal contents with bacterial overgrowth producing substances that interfere with absorption of fat, vitamins, and other nutrients, usually occurring in the small intestine following operations that produce a blind loop or pouch.
Bloch-Sulzberger s.incontinentia pigmenti
Bloom's s. [MIM*210900] congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively fragile; autosomal recessive inheritance.
blue toe s.progressive tissue injury or gangrene from microthromboembolism in the presence of palpable pedal pulses.
Boerhaave's s.spontaneous rupture of the lower esophagus, a variant of Mallory-Weiss s.
Bonnier's s.a s. due to a lesion of Deiters nucleus and its connection; the symptoms include ocular disturbances (e.g., paralysis of accommodation, nystagmus, diplopia), as well as deafness, nausea, thirst, anorexia, and symptoms referable to the involvement of the vagus centers.
Böök s. [MIM*112300] premolar aplasia, hyperhidrosis, and premature canities; autosomal dominant trait.
Börjeson-Forssman-Lehmann s. [MIM*301900] a condition characterized by mental deficiency, epilepsy, hypogonadism, hypometabolism, obesity, and narrow palpebral fissures; X-linked recessive inheritance.
bowel bypass s.fever, chills, malaise, and inflammatory cutaneous papules and pustules on the extremities and upper trunk, sometimes with polyarthralgia, with recurrent symptoms following bowel bypass surgery.
bradytachycardia s. (bra´de-ta-ke-car´de´a) alternate rapid and slow cardiac rates that may represent any rhythm disturbances in any combination usually related to sinus node disease.tachybradycardia s;
Briquet's s.a chronic but fluctuating mental disorder, usually of young women, characterized by frequent complaints of physical illness involving multiple organ systems simultaneously.
Brissaud-Marie s.unilateral spasm of the tongue and lips, of hysterical nature.
Brock's s.middle lobe s
Brown's s.tendon sheath s
Brown-Séquard's s.s. with unilateral spinal cord lesions, proprioception loss and weakness occur ipsilateral to the lesion, while pain and temperature loss occur contralateral.Brown-Séquard's paralysis;
Brugsch's s.pachydermoperiostosis
Budd-Chiari s.Chiari's s
Budd's s.Chiari's s
Bürger-Grütz s.type I familial hyperlipoproteinemia
burner s.multiple episodes of upper extremity burning pain, sometimes accompanied by shoulder girdle weakness, experienced during contact sports, especially football, with each forceful blow to the head or shoulder; attributed to an upper trunk brachial plexopathy.
Burnett's s.milk-alkali s
burning foot s.a disorder observed in prisoners-of-war in World War II, now believed to be due to a pantothenate deficiency.
burning vulva s.persistent vulvodynia in which a physical cause has not been identified.
Buschke-Ollendorf s.osteodermatopoikilosis
Caffey-Kempe s. See battered child s.
Caffey's s.infantile cortical hyperostosis
Caffey-Silverman s.infantile cortical hyperostosis
camptomelic s.also associated with flat facies, short vertebrae, hypoplastic scapula, and bowed tibia.osteochondrodysplasia;
Capgras' s.the delusional belief that a person (or persons) close to the schizophrenic patient has been substituted for by one or more impostors; may have an organic etiology.Capgras' phenomenon, illusion of doubles;
Caplan's s.intrapulmonary nodules, histologically similar to subcutaneous rheumatoid nodules, associated with rheumatoid arthritis and pneumoconiosis in coal workers.Caplan's nodules;
carbonic anhydrase II deficiency s.an inherited deficiency of carbonic anhydrase II that results in osteopetrosis and metabolic acidosis.osteopetrosis with renal tubular acidosis;
carcinoid s.a combination of symptoms and lesions usually produced by the release of serotonin from carcinoid tumors of the gastrointestinal tract that have metastasized to the liver; consists of irregular mottled blushing, flat angiomas of the skin, acquired tricuspid and pulmonary stenosis often with regurgitation, occasionally with some minor involvement of valves on the left side of the heart, diarrhea, bronchial spasm, mental aberration, and excretion of large quantities of 5-hydroxyindoleacetic acid.malignant carcinoid s., metastatic carcinoid s;
cardiofacial s. 1. transient or persistent unilateral partial lower facial paresis accompanying some congenital heart disease. 2. a group of syndromes characterized by congenital cardiovascular, bone, soft tissue, and facial abnormalities. Examples include Rubinstein-Taybi s., Noonan's s. and Williams' s.Williams' s;
Caroli's s.congenital malformation of the bile ducts leading to formation of multifocal dilatations and cysts.
carotid sinus s.stimulation of a hyperactive carotid sinus, causing a marked fall in blood pressure due to vasodilation, cardiac slowing, or both; syncope with or without convulsions or A-V block may occur.Charcot-Weiss-Baker s;
carpal tunnel s.the most common nerve entrapment s., characterized by nocturnal hand paresthesia and pain, and sometimes sensory loss and wasting in the median hand distribution; affects women more than men and is often bilateral; caused by entrapment of the median nerve at the wrist, within the carpal tunnel.
Carpenter's s. 1. the association of primary hypothyroidism, primary adrenocortical insufficiency, and diabetes mellitus. [C. C. J. Carpenter] 2. acrocephalopolysyndactyly [G. Carpenter]
cataract-oligophrenia s.Marinesco-Garland s
cat's cry s.cri-du-chat s
cat's-eye s. [MIM*115470] iris colobomas (resembling the vertical pupils of a cat) and anal atresia, associated with an additional acrocentric chromosome; other malformations and mental retardation may be present.Schmid-Fraccaro s;
cauda equina s.dull pain in upper sacral region with anesthesia or analgesia in buttocks, genitalia, or thigh; accompanied by disturbed bowel and bladder function.
cavernous sinus s.a s. caused by thrombosis of the cavernous intracranial sinus characterized by edema of eyelids and conjunctivae, and paralysis of the third, fourth and sixth nerves.
Ceelen-Gellerstedt s.idiopathic pulmonary hemosiderosis
celiac s.celiac disease
cellular immunity deficiency s.a s. marked by increased susceptibility to infection, especially to viral infection, associated with defective functioning of the mechanism responsible for acquired immunity of the cell-mediated kind. See also immunodeficiency.
central cord s.quadriparesis most severely involving the distal upper extremities, with or without sensory loss and bladder dysfunction, usually due to ischemia from osteophytic or traumatic compression of the central part of the cervical spinal cord and/or artery.
cerebellar s.the signs and symptoms of cerebellar deficiency: dysmetria, dysarthria, asynergia, nystagmus, ataxia, staggering gait, and adiadochokinesia.
cerebellomedullary malformation s.Arnold-Chiari malformation
cerebellopontine angle s.a s. due most commonly to an acoustic tumor in the region between the cerebellum and pons, and marked by ataxia, nystagmus, tinnitus, deafness, disturbances of labyrinth function, and involvement of any of the cranial nerves, fifth, sixth, seventh, ninth, or tenth.
cerebrohepatorenal s. [MIM*214100, MIM*211410] a neonatal s. characterized by muscular hypotonia, incomplete myelinization of nervous tissue, craniofacial malformations, hepatomegaly, and small glomerular cysts of the kidney; there is a perturbation in peroxisomes; autosomal recessive inheritance.Zellweger s;
cervical compression s.cervical disc s
cervical disc s.pain, paresthesias, and sometimes weakness in the area of the distribution of one or more cervical roots, due to pressure of a protruded cervical intervertebral disc.cervical compression s;
cervical fusion s.Klippel-Feil s
cervical rib s.indefinite term, equally applicable to two different syndromes: 1) arterial thoracic outlet s. in which the subclavian artery is compromised by a fully formed cervical rib, and 2) true neurogenic thoracic outlet s. in which the proximal lower trunk of the brachial plexus is compromised by a translucent band extending from a rudimentary cervical rib to the first rib.
cervical rib and band s.true neurogenic thoracic outlet syndrome
cervical tension s.posttraumatic neck s
cervico-oculo-acoustic s. [MIM*314600] a congenital short neck associated with paralysis of the external ocular muscles and with perceptive deafness; occurs in girls.Wildervanck s;
Cestan-Chenais s.contralateral hemiplegia, hemianesthesia, and loss of pain and temperature sensibility, with ipsilateral hemiasynergia and lateropulsion, paralysis of the larynx and soft palate, enophthalmia, miosis, and ptosis, due to lesions of the brain stem.
chancriform s.an ulcerative lesion at the site of primary infection by microorganisms, with regional lymph node enlargement; it occurs not only in chancroid infections but also in various bacterial and fungal infections.
Chandler s.iris atrophy with corneal edema.iridocorneal syndrome;
Charcot's s.intermittent claudication
Charcot-Weiss-Baker s.carotid sinus s
Chauffard's s.the symptoms of Still's disease in one suffering from bovine or other nonhuman form of tuberculosis.Still-Chauffard s;
Chédiak-Steinbrinck-Higashi s. [MIM*214500, MIM*214450] abnormalities of granulation and nuclear structure of all types of leukocytes with malformation of peroxidase-positive granules, cytoplasmic inclusions, and Döhle bodies, often with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes of bones, lungs and heart, skin and psychomotor abnormalities, and susceptibility to infection, usually resulting in death in childhood; occurs in mink, cattle, and mice, as well as man; autosomal recessive inheritance.Béguez César disease, Chédiak-Higashi disease, Chédiak-Steinbrinck-Higashi anomaly;
Cheney s.acro-osteolysis with osteoporosis and changes in the skull and mandible.
cherry-red spot myoclonus s.a neuronal storage disorder in children characterized by a cherry red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency. Type 1 is characterized by normal body habitus, cherry red macula, myoclonus, and normal beta-galactosidase levels; type 2 by short stature, bony abnormalities, and deficient beta-galactosidase.sialidosis;
Chiari-Budd s.Chiari's s
Chiari-Frommel s.unphysiological lactation and amenorrhea following pregnancy, but not caused by infant's nursing; characterized by hyperprolactinemia and a pituitary adenoma.
Chiari II s.elongation of medulla and cerebellar tonsils and vermis with displacement through the foramen magnum into the upper spinal canal; often associated with other cerebral anomalies.
Chiari's s.thrombosis of the hepatic vein with great enlargement of the liver and extensive development of collateral vessels, intractable ascites, and severe portal hypertension.Budd's s., Budd-Chiari s., Chiari's disease, Chiari-Budd s., Rokitansky's disease (2) ;
chiasma s.a s. characterized by a bitemporal visual field defect and optic nerve atrophy due to a lesion in or about the chiasm.
Chilaiditi's s.interposition of the colon between the liver and the diaphragm.
CHILD s.congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Chinese restaurant s.development of chest pain, feelings of facial pressure, and sensation of burning over variable portions of the body surface after ingestion of food containing monosodium l-glutamate (MSG) by persons sensitive to this food additive.
Chotzen's s. [MIM*101400] characterized by syndactyly as well as mild mental retardation, hypertelorism, and sometimes, ptosis; autosomal dominant inheritance. See also type III acrocephalosyndactyly.
Christian's s.Hand-Schüller-Christian disease
Christ-Siemens-Touraine s.anhidrotic ectodermal dysplasia
chromosomal s.general designation for s.'s due to chromosomal aberrations; typically associated with mental retardation and multiple congenital anomalies.
chromosomal instability s.'s, chromosomal breakage s.'sa group of mendelian conditions associated with chromosomal instability and breakage in vitro, they often manifest an increased tendency to certain types of malignancies. See Bloom's s., fragile X s., xeroderma pigmentosum.
chronic hyperventilation s.reduced CO2 content of the blood (hypocapnia) as a result of hyperventilation of prolonged duration; may occur in anxiety states and in some chronic organic, usually cardiovascular, disease; alkalemia, paresthesia, and tetany may occur.
Churg-Strauss s.asthma, fever, eosinophilia, and varied symptoms and signs of vasculitis, primarily affecting small arteries, with vascular and extravascular granulomas.allergic granulomatosis, allergic granulomatous angiitis;
Clarke-Hadfield s.cystic fibrosis
classic cervical rib s.true neurogenic thoracic outlet syndrome
Claude's s.midbrain s. with oculomotor palsy on the side of the lesion and incoordination on the opposite side.
click s.a syndrome, particularly of the atrioventricular valves, in which systole causes a sudden tensing of a scallop of a valve or an entire cusp producing the auscultatory click.valvular prolapse;
climacteric s.menopausal s
cloverleaf skull s. [MIM*148800] intrauterine bone dysplasia and synostosis of the coronal and lambdoid sutures producing a trilobar head shape, with various craniofacial and long-bone anomalies; the condition is sporadic; no evidence to suggest a genetic cause.
Cobb s.cutaneous angiomas, usually in a dermatomal distribution on the trunk, associated with vascular abnormality of the spinal cord and resulting neurologic symptoms.cutaneomeningospinal angiomatosis;
Cockayne's s. [MIM*216400, MIM*216410, MIM*216411] dwarfism, precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, and mental retardation; autosomal recessive inheritance. There is a variant with early onset [MIM*216410].Cockayne's disease;
Coffin-Lowry s.Coffin-Siris s
Coffin-Siris s. [MIM*135900] mental retardation with wide bulbous (pugilistic) nose, low nasal bridge, moderate hirsutism, and digital anomalies with nail hypoplasia (especially of the fifth fingers); the full s. occurs only in males, but female relatives may have abnormal fingers and mild mental retardation; X-linked inheritance, incompletely recessive.Coffin-Lowry s;
Cogan-Reese s.iridocorneal endothelial s
Cogan's s.oculovestibulo-auditory s
Collet-Sicard s.unilateral lesions of the ninth, tenth, eleventh, and twelfth cranial nerves producing Vernet syndrome and paralysis of the tongue on the same side.
combined immunodeficiency s.a serious primary immunodeficiency affecting both T and B cells.
compartmental s.a condition in which increased pressure in a confined anatomical space adversely affects the circulation and threatens the function and viability of the tissues therein.
compression s.crush s
congenital rubella s.fetal infection with rubella virus during the first trimester of pregnancy resulting in a series of congenital abnormalities including heart disease, deafness, and blindness.
Conn's s.primary aldosteronism
Cornelia de Lange s.de Lange s
corpus luteum deficiency s.functional disturbances caused by insufficient ovarian luteinization; reflected by inadequate luteal phase endometrial response.
Costen's s.a symptom complex of loss of hearing, otalgia, tinnitus, dizziness, headache, and burning sensation of the throat, tongue, and side of the nose; originally attributed to temporomandibular joint dysfunction resulting from occlusal disharmony, but currently recognized as not being well founded on anatomic and physiologic principles.
costochondral s.pain in the chest with tenderness over one or more costochondral junctions.
costoclavicular s.one of the forerunners of thoracic outlet syndrome, in which the subclavian artery and vein and, on later reports, the brachial plexus, was thought to be compressed between the clavicle and normal first rib, with the assumption of certain body postures, e.g., the military brace position.
Cotard's s.psychotic depression involving delusion of the existence of one's body, along with ideas of negation and suicidal impulses.
Crandall's s.pili torti and hearing defects associated with hypogonadism; a sex-linked trait in which there is a deficiency of luteinizing and of growth hormone. See also Bjornstad's s.
CREST s.a variant of scleroderma characterized by calcinosis, Raynaud's phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia.
cri-du-chat s., cri du chat s., cat-cry s.a disorder due to deletion of the short arm of chromosome 5, characterized by microcephaly, hypertelorism, antimongoloid palpebral fissures, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic high-pitched catlike whine.cat's cry s., Lejeune s;
Crigler-Najjar s. [MIM*218800] a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase; characterized by familial nonhemolytic jaundice and, in its severe form, by irreversible brain damage in infancy that resembles kernicterus and may be fatal; autosomal recessive inheritance. There is also an autosomal dominant form that may be identical with Gilbert's s.Crigler-Najjar disease;
crocodile tears s.a flow of tears, usually unilateral, upon eating or the anticipation of eating; this happens when nerve fibers originally destined for a salivary gland are damaged and regrow, aberrantly, into the lacrimal gland.
Cronkhite-Canada s. [MIM*175500] a sporadically occurring s. of gastrointestinal polyps with diffuse alopecia and nail dystrophy; probably not genetic.
Crouzon's s.craniofacial dysostosis
crush s.the shocklike state that follows release of a limb or limbs or the trunk and pelvis after a prolonged period of compression, as by a heavy weight; characterized by suppression of urine, probably the result of damage to the renal tubules by myoglobin from the damaged muscles.compression s;
Cruveilhier-Baumgarten s.cirrhosis of the liver with patent umbilical or paraumbilical veins and varicose periumbilical veins (caput medusae).Cruveilhier-Baumgarten disease;
cryptophthalmus s.Fraser's s
Cushing's s.a disorder resulting from increased adrenocortical secretion of cortisol (giving clinical picture of Cushing's disease), due to any one of several sources: ACTH-dependent adrenocortical hyperplasia or tumor, ectopic ACTH-secreting tumor, or excessive administrations of steroids; characterized by trunkal obesity, moon face, acne, abdominal striae, hypertension, decreased carbohydrate tolerance, protein catabolism, psychiatric disturbances, and osteoporosis, amenorrhea, and hirsutism in females; when associated with an ACTH producing adenoma, called Cushing's disease.Cushing's basophilism;
Cushing's s. medicamentosusa variable number of the signs and symptoms of Cushing's s.; produced by the chronic administration of large doses of any steroid that is a potent glucocorticoid.
cutaneomucouveal s.Behçet's s
DaCosta's s.neurocirculatory asthenia
Dandy-Walker s. [MIM*304340] developmental anomaly of the fourth ventricle associated with atresia of the foramina of Luschka and Magendie that results in cerebellar hypoplasia, hydrocephalus, and posterior fossa cyst formation.
dead fetus s.s. characterized by lengthy intrauterine retention of a dead fetus usually greater than 4 weeks with development of hypofibrinogenemia and occasionally disseminated intravascular coagulopathy.
Debré-Sémélaigne s.Kocher-Debré-Sémélaigne s
de Clerambault s.erotomania accompanied by the delusional belief that a certain person is in love with you.
Degos' s.malignant atrophic papulosis
Dejerine-Roussy s.thalamic s
de Lange s. [MIM 122470] a congenital anomaly characterized by impaired development, mental retardation, characteristic facies with snyophrys and hairline well down on forehead, depressed bridge of nose with uptilted tip of nose, small head with low-set ears, and flat spadelike hands with simian crease and short tapering fingers.Amsterdam s., Cornelia de Lange s;
Del Castillo s.Sertoli-cell-only s
de Morsier's s.septo-optic dysplasia
dengue shock s.dengue fever of grade III or IV severity.
depersonalization s.depersonalization
depressive s.depression
dermatitis-arthritis-tenosynovitis s.disseminated infection with Neisseria gonorrhoeae, causing skin lesions (often pustular or necrotic), plus synovitis of major joints (such as knee, ankle, elbow), and tendon sheaths.
De Sanctis-Cacchione s. [MIM*278800] xeroderma pigmentosum with mental deficiency, dwarfism, and gonadal hypoplasia; recessive inheritance.
De Toni-Fanconi s.cystinosis
s. of deviously relevant answersGanser's s
dialysis disequilibrium s.nausea, vomiting, and hypertension, occasionally with convulsions, developing within several hours after starting hemodialysis for renal failure; apparently caused by too rapid removal of urea from the extracellular fluid compartment, with movement of water into cells, and cerebral edema.
dialysis encephalopathy s.a progressive, often fatal, diffuse encephalopathy occurring in a few patients on chronic hemodialysis; to be differentiated from the relatively acute, self-limited dialysis disequilibrium s.dialysis dementia;
Diamond-Blackfan s.congenital hypoplastic anemia
diencephalic s. of infancyprofound emaciation after initial normal growth, locomotor hyperactivity and euphoria, usually with skin pallor, hypotension and hypoglycemia; usually due to neoplasm involving the anterior hypothalamus.
Di Ferrante s. [MIM*253230] associated with a deficiency of N-acetylglucosamine 6-sulfatase and urinary excretion of heparan sulfate and keratan sulfate.type VIII mucopolysaccharidosis (1) ;
DiGeorge s.a condition arising from developmental failure of the third and fourth pharyngeal pouches, resulting in absence or underdevelopment of the thymus and parathyroid gland, among other structures; associated with facial deformity, hypoparathyroidism, and deficiency in cellular (T-lymphocyte) immunity, but humoral (B-lymphocyte) immunity is normal; ordinarily, if the tetany is not fatal, death ensues from overwhelming infection.congenital aplasia of thymus, immunodeficiency with hypoparathyroidism, pharyngeal pouch s., third and fourth pharyngeal pouch s;
Di Guglielmo's s. [MIM*133180] eponym for the acute form of erythremic myelosis.
disconnection s.general term for various neurological disorders due to interruption of fiber pathways of the cerebrum.
disk s.a constellation of symptoms and signs, including pain, paresthesias, sensory loss, weakness, and impaired reflexes, due to a compressive radiculopathy caused by intervertebral disk pressure.
disputed neurogenic thoracic outlet s.a highly controversial disorder in which the brachial plexus is reputedly repressed at one or more sites along its course, particularly within the interscalene triangle, and between the normal first thoracic rib and some other structures; frequently attributed to trauma (particularly automobile accidents, and most often diagnosed in young to middle-aged women; no characteristic clinical presentation, although forequarter pain is characteristic; no definite objective findings are present, and no undisputed ancillary diagnostic studies are available.
Donohue's s.leprechaunism
Doose s.a rare familial type of primary, generalized myoclonic astatic epilepsy characterized by 2 to 3 or 4 to 6 Hz spike and wave complexes in the EEG; the condition usually responds to medication.
Dorfman-Chanarin s. [MIM*275630] congenital ichthyosis, leukocyte vacuoles, and variable involvement of other organ systems.neutral lipid storage disease;
Down's s.a chromosomal dysgenesis syndrome consisting of a variable constellation of abnormalities caused by triplication or translocation of chromosome 21. The abnormalities include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, and transverse palmar crease. Lenticular opacities and heart disease are common. The incidence of leukemia is increased and Alzheimer's disease is almost inevitable by age 40.trisomy 21 s;
Dressler's s.pericarditis
dry eye s.keratoconjunctivitis sicca
Duane's s.retraction s
Dubin-Johnson s. [MIM*237500] autosomal recessive, inherited defect in hepatic excretory function characterized by levels of serum bilirubin up to about 6 mg/dL, over half of which is conjugated, and excretion of abnormal proportions of coproporphyrin I in urine. There is also retention of a dark pigment in the hepatocytes that is derived either from melanin or catecholamines, but otherwise liver histology is normal. Oral cholecystogram fails to visualize the gall bladder, and excretion of bromosulfothalein by the liver is abnormal. The basic defect is apparently in canalicular transport. No therapy is necessary.chronic idiopathic jaundice;
Dubreuil-Chambardel s.simultaneous caries of the upper incisor teeth occurring in either sex between the ages of 14 and 17; after an interval of varying length the other teeth also become involved.
Duchenne's s.subacute or chronic anterior spinal paralysis combined with multiple neuritis.
dumping s.the s. that occurs after eating, most often seen in patients with shunts of the upper alimentary canal; characterized by flushing, sweating, dizziness, weakness, and vasomotor collapse, occasionally with pain and headache; results from rapid passage of large amounts of food into the small intestine, with an osmotic effect removing fluid from plasma and causing hypovolemia.postgastrectomy s;
Dyggve-Melchior-Clausen s. [MIM*223800] an osteochondrodysplasia that clinically resembles Morquio's s., but without excretion of mucopolysaccharides; characterized by mental retardation, short stature, progressive sternal bulging, flattening of vertebral bodies and iliac crests, shortening of metacarpals, and changes in long bones; autosomal recessive inheritance, but there is an X-linked form [MIM*304950].
dyskinesia (dis-ki-ne´ze-a) clearance of mucus is sluggish and bronchiectasis is prevalent and intractable. There is evidence that the defect lies in dynein, a protein in the cilia. The pattern of inheritance is apparently autosomal recessive [MIM*242650] however multiple versions may exist.
dysmnesic s.Korsakoff's s
dysplastic nevus s. [MIM*155600] clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of cutaneous malignant melanoma; biopsies show melanocytic dysplasia; such nevi are very numerous in familial dysplastic nevus s. with hereditary melanoma, but histologically identical sporadic nevi also occur that appear to be clinically benign. Autosomal dominant.
Eagle s.facial pain due to an elongated styloid process.
Eagle-Barrett s.prune belly s
Eaton-Lambert s.Lambert-Eaton s
ectopic ACTH s.the association of Cushing's s. with a non-pituitary neoplasm, usually a lung carcinoma that produces ACTH.
ectrodactyly-ectodermal dysplasia-clefting s.an autosomal recessive disorder resulting in defects of hands and feet; the ectodermal dysplasia causes fair skin, anodontia, and cleft palate.
Edwards' s.trisomy 18 s
effort s.neurocirculatory asthenia
egg drop s.a disease of chickens caused by an adenovirus and characterized by production of soft-shelled and shell-less eggs in apparently healthy birds.
egg-white s.dermatitis, loss of hair, and loss of muscle coordination, produced in rats by diets containing large amounts of raw egg white, the avidin of which combines with biotin producing a deficiency of the latter.egg-white injury;
Ehlers-Danlos s. [MIM*130000-130080, 225330, 225400,] a group of inherited generalized connective tissue diseases characterized by overelasticity and friability of the skin, hypermobility of the joints, and fragility of the cutaneous blood vessels and sometimes large arteries, due to deficient quality or quantity of collagen; the most common is inherited as an autosomal dominant trait; some recessive cases have hydroxylysine-deficient collagen due to deficiency of collagen lysyl hydroxylase, and two tentatively ascribed to X-linked inheritance.
Eisenlohr's s.numbness and weakness in the extremities, paralysis of the lips, tongue, and palate, and dysarthria.
Eisenmenger's s.cardiac failure with significant right to left shunt producing cyanosis due to higher pressure on the right side of the shunt. Usually due to the Eisenmenger complex, a ventricular septal defect with right ventricular hypertrophy, severe pulmonary hypertension, and frequent straddling of the defect by a misplaced aortic root.
Ekbom s.restless legs s
Ellis-van Creveld s.chondroectodermal dysplasia
E-M s.eosinophilia-myalgia s
EMG s.Beckwith-Wiedemann s
encephalotrigeminal vascular s.angiomatosis of the brain accompanied by nevi in the trigeminal area. See also Sturge-Weber s.
eosinophilia-myalgia s.a probable autoimmune disorder precipitated by contaminated L-tryptophan tablets, and characterized by fatigue, low-grade fever, myalgias, muscle tenderness and cramps, weakness, paresthesias of the extremities, and skin indurations; marked eosinophilia is noted on peripheral blood studies, serum aldolase increased and biopsies of peripheral nerve, muscle, skin, and fascia show microangiopathy and inflammation in connective tissue.E-M s;
episodic dyscontrol s.intermittent explosive disorder
erythrodysesthesia s.tingling sensation of the palms and soles, progressing to severe pain and tenderness with erythema and edema; caused by continuous infusion therapy.
euthyroid sick s. (yu-thI´royd) abnormalities in levels of hormones and function tests related to the thyroid gland occurring in patients with severe systemic disease. Thyroid function is actually normal in these patients, and it is uncertain whether treatment of these abnormalities would be beneficial.sick euthyroid s;
Evans' s.acquired hemolytic anemia and thrombocytopenia.
exfoliation s.a condition, often leading to glaucoma, in which deposits on the surface of the lens resemble exfoliation of the lens capsule. See also pseudoexfoliation of lens capsule.
extrapyramidal s.abnormalities of movement related to injury of motor pathways other than the pyramidal tract.
Faber's s.achlorhydric anemia
familial aortic ectasia s.the concurrence as an autosomal dominant trait of bicuspid aortic valve often with premature calcification, ectasia and dissection of the aorta and, rarely, coarctation of the aorta. Superficially resembles the Marfan's s.familial aortic ectasia;
familial chylomicronemia s.an inherited disorder resulting in accumulation of chylomicrons as well as triacylglycerols. See also chylomicronemia.
Fanconi's s. [MIM*227650 to 227660] 1. Fanconi's anemia 2. a group of conditions with characteristic disorders of renal tubular function, which may be classified as: 1) cystinosis, an autosomal recessive disease of early childhood; 2) adult Fanconi s., a rare hereditary form, probably due to a recessive gene different from that found in cystinosis, characterized by the tubular malfunction seen in cystinosis and by osteomalacia, but without cystine deposit in tissues; 3) acquired Fanconi s., which may be associated with multiple myeloma or may result from chemical poisoning, injury, or persisting damage of proximal tubular epithelium due to various causes, leading to multiple defects of tubular function.
Farber's s. [MIM*228000] disseminated lipogranulomatosis
fatty liver s.a noninfectious disease of chickens characterized by enlarged fat-infiltrated livers.
Favre-Racouchot s.periorbital and malar open comedones, often with marked solar elastosis.
feline urolithiasis s.feline urological s
feline urological s.a common disease of cats where development of urinary calculi produce urethral obstruction in males and cystitis and urethritis in females.feline urolithiasis s;
Felty's s.rheumatoid arthritis with splenomegaly and leukopenia.
female urethral s.urethral s
fetal alcohol s.a specific pattern of fetal malformation with growth deficiency, craniofacial anomalies, and limb defects, found among offspring of mothers who are chronic alcoholics; mental retardation is often demonstrated later.
fetal aspiration s.a s. resulting from uterine aspiration of amniotic fluid and meconium by the fetus, usually caused by hypoxia and often leading to aspiration pneumonia.
fetal face s.a s. of facies resembling an early fetus with short forearms, and genital hypoplasia at birth, but without evidence of achondroplasia; leads to dwarfism without mental retardation.Robinow's s;
fetal hydantoin s.a fetal s. resulting from maternal ingestion of hydantoin analogues (e.g., phenytoin), characterized by growth deficiency, mental deficiency, dysmorphic facies, cleft palate and/or lip, cardiac defects, and abnormal genitalia.
fetal trimethadione s.a fetal s. resulting from maternal ingestion of trimethadione during the early weeks of pregnancy and characterized by developmental delay, V-shaped eyebrows, epicanthus, low-set ears with anteriorly folded helix, palatal anomaly, and irregular teeth.
fetal warfarin s.fetal bleeding, nasal hypoplasia, optic atrophy, and fetal death resulting from administration of warfarin to the pregnant patient.
fibrinogen-fibrin conversion s.a s. characterized by hypofibrinogenemia with incoagulable blood; it may be seen in abruptio placentae, prolonged retention of a dead fetus in an Rh-isosensitized mother, hemolytic blood reactions, bilateral renal cortical necrosis, and cases of trauma.
Fiessinger-Leroy-Reiter s.Reiter's s
Figueira's s.weakness of the neck muscles with slight spasticity of the muscles of the lower extremities and increased tendon reflexes; supposed to be an attenuated sporadic form of acute poliomyelitis.
first arch s.generic term including s.'s of malformations involving derivatives of the first branchial arch, with or without associated malformations; includes mandibulofacial dysostosis, micrognathia with peromelia, otomandibular dystosis, acrofacial dysostosis, and others.
Fisher's s.a s. characterized by ophthalmoplegia, ataxia, and areflexia; a form of polyneuroradiculitis.
Fitz-Hugh and Curtis s.perihepatitis in women with a history of gonococcal or chlamydial salpingitis.
flashing pain s. [MIM*190400] sudden, intermittent, and severe brief episodes of pain, without apparent cause, in the distribution of a spinal dermatome; resembles in character the pain of tic douloureux. Cf. tic douloureux.
flecked retina s. [MIM*228980] hereditary retinal disorder with abnormal transmission of fluorescence through the retinal pigment epithelium on angiography.
floppy valve s.retrograde slippage of degenerating mitral or tricuspid valve leaflets into the valve's orifice beyond the point of closure during systole of the left ventricle; a feature of Barlow's s.
Flynn-Aird s. [MIM*136300] a familial s. characterized by muscle wasting, ataxia, dementia, skin atrophy, and ocular anomalies.
Foix-Alajouanine s.thrombophlebitis of spinal veins resulting in a subacute ascending painful flaccid paralysis from necrotic myelitis.
Foix-Cavany-Marie s.constellation of facio-pharyngo-glosso-masticatory diplegia with automatic voluntary dissociation without associated dementia or forced laughing or crying usually caused by bilateral large artery infarcts of the opercular cortex.
folded-lung s.collapse of part of the lung caught between shrinking fibrous pleura scars, sometimes resulting from pleural asbestosis.round atelectasis;
Forbes-Albright s.pituitary tumor in a patient without acromegaly, which secretes excessive amounts of prolactin (LTH) and produces persistent lactation.
Foster Kennedy's s.Kennedy's s
Foville's s.a form of alternating hemiplegia characterized by abducens paralysis on one side, paralysis of the extremities on the other.
fragile X s. See fragile X chromosome.
Fraley s.dilation of the upper pole renal calices due to stenosis of the upper infundibulum, usually caused by compression from vessels supplying the upper and middle segments of the kidney.
Franceschetti-Jadassohn s.Naegeli s
Franceschetti's s.mandibulofacial dysostosis, when complete or nearly complete.
Fraser's s. [MIM*219000] an association of cryptophthalmus with multiple anomalies, including middle and outer ear malformations, cleft palate, laryngeal deformity, displacement of umbilicus and nipples, digital malformations, separation of symphysis pubis, maldevelopment of kidneys, and masculinization of genitalia in females; autosomal recessive inheritance.cryptophthalmus s;
Freeman-Sheldon s.craniocarpotarsal dystrophy
Frenkel's anterior ocular traumatic s.an obsolete term for traumatic iridoplegia, which consists of mydriasis, hyphema, small iris tears near the pupil, discrete punctate opacities of the lens, and occasionally iridodialysis.
Frey's s.auriculotemporal nerve s
Friderichsen-Waterhouse s.Waterhouse-Friderichsen s
Fröhlich's s.dystrophia adiposogenitalis, originally involving an adenohypophysial tumor.Launois-Cléret s;
Froin's s.an alteration in the cerebrospinal fluid, which is yellowish and coagulates spontaneously in a few seconds after withdrawal, owing to its greatly increased protein (albumin and globulin) content; noted in loculated portions of the subarachnoid space isolated from spinal fluid circulation by an inflammatory or neoplastic obstruction.loculation s;
Fuchs' s. [MIM*136800] a s. characterized by heterochromia of the iris, iridocyclitis, keratic precipitates, and cataract.Fuchs' heterochromic cyclitis;
functional prepubertal castration s.a s. characterized by the absence of testes from the scrotum but in their place mesonephric duct derivatives, pronounced gynecomastia and eunuchoid habitus, and increased urinary excretion of gonadotrophins.
G s. [MIM*145410] a s. of characteristic facies associated with hypospadias, ventral curvature of the penis, and dysphagia. Apparently the same as the BBB syndrome of Opritz et al. Autosomal dominant inheritance. [first letter of surname of affected person reported]
Gaisböck's s.polycythemia hypertonica
Ganser's s.a psychotic-like condition, without the symptoms and signs of a traditional psychosis, occurring typically in prisoners who feign insanity; e.g., such a person, when asked to multiply 6 by 4, will give 23 as the answer, or he will call a key a lock. See malingering, factitious disorder.nonsense s., s. of approximate relevant answers, s. of deviously relevant answers;
Gardner-Diamond s.autoerythrocyte sensitization s
Gardner's s. [MIM*175100-006] multiple polyposis predisposing to carcinoma of the colon; also multiple tumors, osteomas of the skull, epidermoid cysts, and fibromas; autosomal dominant inheritance.
gastrocardiac s.disturbances of the heart's action due to faulty action of the digestive system, especially of the stomach.
gastrojejunal loop obstruction s.afferent loop s
gay bowel s.gastrointestinal discomfort experienced by homosexual males; includes abdominal pain, cramps, bloating, flatulence, nausea, vomiting, or diarrhea caused by enteric bacteria, viruses, fungi, zooparasites, or trauma.
Gélineau's s.narcolepsy
gender dysphoria s.a s. in which an individual experiences marked personal stress due to feelings that despite having the genitalia and secondary sexual characteristics of one gender there is a sense of compatibility and greater belonging to the other gender class; one may undergo surgery to reconstruct anatomy to that of the other gender.
general adaptation s.a s. introduced by Hans Selye to describe marked physiological changes in various organ systems of the body, especially the pituitary-endocrine system, as a result of exposure to prolonged physical or psychological stress, with the bodily changes progressing through three stages that the author described as the alarm reaction, resistance, and finally exhaustion.
Gerstmann s.finger agnosia, agraphia, confusion of laterality of body, and acalculia; caused by lesions between the occipital area and the angular gyrus.
Gerstmann-Sträussler s.a more chronic cerebellar form of spongiform encephalopathy.
Gianotti-Crosti s.a cutaneous manifestation of hepatitis B infection occurring in young children; an exanthem comprised of dusky papules on the legs, buttocks, and extensors of the arms; it lasts 2 to 8 weeks and is associated with adenopathy and malaise.papular acrodermatitis of childhood;
Gilbert's s.familial nonhemolytic jaundice
Gilles de la Tourette's s. [MIM*137580] Tourette s
glucagonoma s.necrolytic migratory erythema or intertriginous and periorificial dermatitis, stomatitis, anemia, weight loss, and hyperglycemia resulting from glucagon-secreting pancreatic islet cell tumors.
Goldenhar's s. [MIM*257700] oculoauriculovertebral dysplasia
gold-myokymia s.the symptom complex of widespread myokymia, muscle aching, and autonomic disturbances (excess sweating; orthostatic hypotension) that can result from gold therapy.
Goltz s.focal dermal hypoplasia
Goodman's s.acrocephalopolysyndactyly
Goodpasture's s. [MIM*233450] glomerulonephritis of the anti-basement membrane type associated with or preceded by hemoptysis; the nephritis usually progresses rapidly to produce death from renal failure, and the lungs at autopsy show extensive hemosiderosis or recent hemorrhage.
Gopalan's s.severe discomfort of the feet associated with elevated skin temperature and excessive sweating.
Gorlin-Chaudhry-Moss s. [MIM*233500] craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, and dental and ocular abnormalities; sporadic, and no basic mechanism is proposed. See also Weill-Marchesani s.
Gorlin's s.basal cell nevus s
Gorman's s.hemangiomatosis of the skeletal system with or without involvement of the overlying skin, resulting in osteolysis and fibrous replacement of bone.
Gougerot-Carteaud s.confluent and reticulate papillomatosis
Gowers' s.s. consisting of palpitation, chest pain, respiratory difficulties, and disturbances in gastric motility; once attributed to vagal stimulation, now considered psychogenic (anxiety neurosis).vagal attack, vasovagal attack;
gracilis s.osteonecrosis of the pubic bone following trauma.
Gradenigo's s.petrositis with abducens paralysis and pain in the temporal region, due to localized meningitis involving the fifth and sixth nerves.
Graham Little s.lichen planopilaris
gray s., gray baby s.gray appearance of an infant at birth and during the neonatal period which can be caused by transplacental toxic effects of the drug chloramphenicol taken by the mother during late pregnancy; the s. may be fatal.
gray collie s.cyclic hematopoiesis
Greig's s.ocular hypertelorism
Grönblad-Strandberg s.angioid streaks of the retina together with pseudoxanthoma elasticum of the skin.
Gubler's s.a form of alternating hemiplegia characterized by contralateral hemiplegia and ipsilateral facial paralysis.Gubler's paralysis, Millard-Gubler s;
Gulf War s.a term often but inappropriately applied to various health problems experienced by US military personnel after serving in the Persian Gulf conflict of 1991; symptoms of fatigue, musculoskeletal pain, headaches, dyspnea, memory loss, and diarrhea have been reported, but an NIH panel has concluded that evidence of a specific syndrome is lacking.Persian Gulf s;
Guillain-Barré s.acute idiopathic polyneuritis
Gunn's s.jaw-winking s
gustatory sweating s.auriculotemporal nerve s
Haber's s.a permanent flushing and telangiectasia of the cheeks, nose, forehead, and chin, with prominent follicular openings, small papules with scaling, and minute pitted areas; occasionally accompanied by scaly and keratotic lesions of the trunk.
Hallermann-Streiff s.dyscephalia mandibulo-oculofacialis
Hallermann-Streiff-François s.dyscephalia mandibulo-oculofacialis
Hallervorden s.Hallervorden-Spatz s
Hallervorden-Spatz s.a disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life; associated with large amounts of iron in the globus pallidus and substantia nigra.Hallervorden s., Hallervorden-Spatz disease, status dysmyelinisatus;
Hallgren's s.vestibulocerebellar ataxia, pigmentary retinal dystrophy, congenital deafness, and cataract.
Hamman-Rich s.usual interstitial pneumonia of Liebow
Hamman's s.spontaneous mediastinal emphysema, resulting from rupture of alveoli.Hamman's disease;
hand-and-foot s.recurrent painful swelling of the hands and feet occurring in infants and young children with sickle cell anemia.sickle cell dactylitis;
Hanhart's s.micrognathia with peromelia
happy puppet s. [MIM*234400] a s. characterized by mental retardation, ataxia, hypotonia, epileptic seizures, easily provoked and prolonged spasms of laughter, prognathism, and an open-mouthed expression.
Harada's s.bilateral retinal edema, uveitis, choroiditis, and retinal detachment, with temporary or permanent deafness, graying of the hair (poliosis), and alopecia; related to the Vogt-Koyanagi s. and sympathetic ophthalmia.Harada's disease, uveoencephalitis, uveomeningitis s;
Harris s.excessive insulin production with hypoglycemia, hunger, jitteriness, tachycardia, and flushing occurring in conditions such as functional disorders of the pancreas, hyperplasia of the islets of Langerhans, or insulinoma.
Hartnup s.Hartnup disease
Hayem-Widal s.obsolete term for acquired hemolytic icterus.Widal's s;
head-bobbing doll s.bobbing motion of the head usually due to cysts in or about the third ventricle.
Hegglin's s.dissociation between electromechanical systole (Q-SII interval) and electrical systole (Q-T interval) so that the second heart tone (SII) is recorded before the end of the T wave; described by Hegglin as an energy-dynamic cardiac insufficiency during diabetic coma and other metabolic disorders.
HELLP s.type of severe preeclampsia involving hemolysis, elevated liver function, and low platelets.
Helweg-Larssen s. [MIM*125050] familial anhidrosis present from birth with neurolabyrinthitis developing in the fourth or fifth decade.
hemangioma-thrombocytopenia s.Kasabach-Merritt s
hemolytic uremic s.hemolytic anemia and thrombocytopenia occurring with acute renal failure. In children, characterized by sudden onset of gastrointestinal bleeding, hematuria, oliguria, and microangiopathic hemolytic anemia; in adults, associated with complications of pregnancy following normal delivery, or associated with oral contraceptive use or with infection.
Henoch-Schönlein s.Henoch-Schönlein purpura
hepatorenal s., hepatonephoric s.the occurrence of acute renal failure in patients with disease of the liver or biliary tract, apparently due to decreased renal blood flow; conditions that damage both organs, such as carbon tetrachloride poisoning and leptospirosis.
Herlitz s.epidermolysis bullosa lethalis
Hermansky-Pudlak s. type VIoculocutaneous albinism
Hermansky-Pudlak s.a form of oculocutaneous albinism (autosomal recessive) with accumulation of ceroid in lysosomes with restrictive lung disease, granulomatous colitis, kidney failure, cardiomyopathy, and storage pool-deficient platelets.
Herrmann's s. [MIM*172500] a nervous system disorder beginning in late childhood or early adolescence, with photomyoclonus and hearing loss followed by diabetes mellitus, progressive dementia, pyelonephritis, and glomerulonephritis; progressive sensorineural hearing loss is of later onset; dominant inheritance.
Hinman s.nonneurogenic neurogenic bladder
Hirschowitz s.acanthosis nigricans associated with hypovitaminosis; responds well to topical retinoic acid therapy.
holiday s.regression, development of diffuse anxiety, feelings of helplessness, irritability, and depression; said to occur in certain psychoanalytic patients before Thanksgiving and continuing into the Christmas holiday season, ending a few days after January 1.
holiday heart s.arrhythmias of the heart, sometimes apparent after a vacation or weekend away from work, following excessive alcohol consumption; usually transient.
Holmes-Adie s.Adie s
Holt-Oram s. [MIM*142900] atrial septal defect in association with finger-like or absent thumb and other deformities of the forearm; autosomal dominant inheritance.
Horner's s.ptosis, miosis, and anhidrosis on the side of the sympathetic palsy. The enophthalmos is more apparent than real. The affected pupil is visibly slow to dilate in dim light; due to a lesion of the cervical sympathetic chain or its central pathways.Bernard-Horner s., ptosis sympathetica;
Houssay s.the amelioration of diabetes mellitus by a destructive lesion in, or surgical removal of, the pituitary gland.
Hughes-Stovin s.s. characterized by aneurysms of the large and small pulmonary artery and thrombosis of peripheral veins and dural sinuses.
Hunt's s. [MIM*159700] 1. an intention tremor beginning in one extremity, gradually increasing in intensity, and subsequently involving other parts of the body;progressive cerebellar tremor; 2. facial paralysis, otalgia, and herpes zoster resulting from viral infection of the seventh cranial nerve and geniculate ganglion; 3. a form of juvenile paralysis agitans associated with primary atrophy of the pallidal system.paleostriatal s., pallidal s; Ramsay Hunt's s. (1) ;
Hunter's s. [MIM*309900] an error of mucopolysaccharide metabolism characterized by deficiency of iduronate sulfatase, with excretion of dermatan sulfate and heparan sulfate in the urine; clinically similar to Hurler's s. but distinguished by less severe skeletal changes, no corneal clouding, and X-linked recessive inheritance.type II mucopolysaccharidosis;
Hurler's s. [MIM*252800] mucopolysaccharidosis in which there is a deficiency of a-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See also mucolipidosis.dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler s., type IH mucopolysaccharidosis;
Hurler-Scheie s.a phenotypic intermediate between Hurler s. and Scheie s.; a deficiency of a-l-iduronidase.type I H/S mucopolysaccharidosis;
Hutchinson-Gilford s.progeria
Hutchison s.adrenal neuroblastoma of infants with metastasis to the orbit; at one time erroneously believed to arise predominantly from the left adrenal gland. See also Pepper s.
hyaline membrane s.hyaline membrane disease of the newborn
hydralazine s.a s. simulating systemic lupus erythematosus, occurring during protracted therapy of hypertension with hydralazine.
17-hydroxylase deficiency s. [MIM*202110] congenital deficiency of adrenocortical, and possibly ovarian, steroid C-17a hydroxylase; the resulting excessive secretion of corticosterone and deoxycorticosterone produces hypertension and hypokalemic alkalosis; absence of aldosterone secretion in such patients may indicate a multiple enzymic deficiency.
hyperabduction s.pain running down the arm, numbness, paresthesias, and erythema, with weakness of the hands; due to abduction of the arm for a prolonged period (e.g., during sleep or necessitated by occupation) which stretches the axillary vessels and the nerves of the brachial plexus.subcoracoid-pectoralis minor tendon s., Wright's s;
hyperactive child s.attention deficit hyperactivity disorder
hypereosinophilic s.persistent peripheral eosinophilia with later infiltration into bone marrow, heart, and other organ systems; accompanied by nocturnal sweating, coughing, anorexia and weight loss, itching and various skin lesions, and symptoms of Löffler's endocarditis.
hyperimmunoglobulin E s.an immunodeficiency disorder characterized by high levels of plasma IgE concentrations, a leukocyte chemotactic defect, and recurrent staphylococcal infections of the skin, upper respiratory tract, and other sites.Job s;
hyperkinetic s.a condition marked by pathologically excessive energy seen sometimes in young children with brain injury, mental illness, and attention deficit disorder, and in epileptics; hypermotility and emotional instability are the chief characteristics; distractibility, inattention, and lack of shyness and of fear are common accompaniments.
hyperkinetic heart s.loosely, a syndrome in which the heart appears to be "overworking", i.e., beating excessively fast and/or causing subjective awareness of continual cardiac activity.
hyperornithinemia-hyperammonemia-hypercitrullinuria s.a rare inherited disorder in which there is impaired ornithine transport into the mitochondria. See also lysinuric protein intolerance.
hypersensitive xiphoid s.abnormal tenderness of the xiphoid, often associated with spontaneous pains in the chest, upper abdomen, and shoulders.
hyperventilation s. See chronic hyperventilation s.
hyperviscosity s.a s. resulting from increased viscosity of the blood; an increase in serum proteins may be associated with bleeding from mucous membranes, retinopathy, and neurological symptoms, and is sometimes seen in Waldenström's macroglobulinemia and in multiple myeloma; an increased viscosity secondary to polycythemia may be associated with organ congestion and decreased capillary perfusion.
hypometabolic s.a clinical situation suggesting hypothyroidism or myxedema, in which some tests of thyroid function may be normal and the gland is not obviously atrophic or diseased; indicative of a lack of sensitivity of peripheral tissues to thyroid hormone.
hypoparathyroidism s.a s. characterized by fatigue, muscular weakness, paresthesia and cramps of the extremities, tetany, and laryngeal stridor; due to hypocalcemia resulting from a lack of parathyroid hormone; may be idiopathic, postoperative, or caused by organic lesions of the parathyroids.
hypophysial s.dystrophia adiposogenitalis
hypophysio-sphenoidal s.neoplastic invasion of the base of the skull in the region of the sphenoidal sinus, often with destruction of the dorsum sellae.
hypoplastic left heart s. [MIM*241550] association of underdevelopment of the left heart chambers with atresia or stenosis of the aortic and/or mitral valve and hypoplasia of the ascending aorta.
Imerslünd-Grasbeck s.enterocyte cobalamin malabsorption.
immotile cilia s. [MIM*242650] an inherited disorder characterized by recurrent sinopulmonary infections, reduced fertility in women, and sterility in men due to the inability of ciliated structures to beat effectively because of the absence of one or both dynein arms. Cf. Kartagener's s.
immunodeficiency s.an immunological deficiency or disorder, of which the chief symptom is an increased susceptibility to infection, the pattern of susceptibility being dependent upon the kind of deficiency. See also immunodeficiency.
s. of inappropriate secretion of antidiuretic hormone (SIADH) continued secretion of antidiuretic hormone despite low serum osmolality and expanded extracellular volume.
indifference to pain s.congenital insensitivity to pain, possibly due to an absence of organized nerve endings in the skin.
infertile male s.an inherited disorder of the androgen receptor protein resulting in defective androgen activity. See also Reifenstein's s.
internal capsule s.hemianopsia with contralateral hemianesthesia of the face.
inversed jaw-winking s.when there are supranuclear lesions of the trigeminal nerve, touching the cornea may produce a brisk movement of the mandible to the opposite side.
iridocorneal endothelial s.s. of glaucoma, iris atrophy, decreased corneal endothelium, anterior peripheral synechia, and multiple iris nodules.Cogan-Reese s., iris-nevus s;
iridocorneal syndromeChandler s
iris-nevus s.iridocorneal endothelial s
Irvine-Gass s.macular edema, aphakia, and vitreous humor adherent to incision for cataract extraction.
Isaac's s.a rare sporadic disorder of unknown etiology with onset usually in late childhood or early adulthood, characterized by intermittent or continuous involuntary muscle contractions, producing "stiffness" or "clumsiness" and accompanied by increased sweating, increased skin temperature, fasciculations, and myokymia. If facial, pharyngeal, or laryngeal muscles are involved, dysphasia and respiratory obstruction can occur. Muscle abnormalities persist during sleep and general anesthesia, but are blocked by curare, indicating site of lesion is peripheral nerve.
Ivemark's s. [MIM*208530] a possibly heritable disorder in which organs of the left side of the body are a mirror image of their counterpart on the right side (e.g., normal asymmetry of the lungs is lost and the left lung has three lobes); splenic agenesis and cardiac malformations are associated.
Jadassohn-Lewandowski s.pachyonychia congenita
Jahnke's s.sturge-Weber s. without glaucoma.
jaw-winking s. [MIM*154600] an increase in the width of the eye lids during chewing, sometimes with a rhythmic elevation of the upper lid when the mouth is open and ptosis when the mouth is closed.Gunn phenomenon, Gunn's s., jaw-winking phenomenon, jaw-working reflex, Marcus Gunn phenomenon, Marcus Gunn s;
Jeghers-Peutz s.Peutz-Jeghers s
Jervell and Lange-Nielsen s.a prolonged Q-T interval recorded in the electrocardiogram of certain congenitally deaf children subject to attacks of unconsciousness resulting from Adams-Stokes seizures and ventricular fibrillation; autosomal recessive inheritance.surdocardiac s;
Jeune's s.asphyxiating thoracic dysplasia
Job s.hyperimmunoglobulin E s [Job, biblical char.]
Joubert's s. [MIM*213300] agenesis of the cerebellar vermis, characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation.
jugular foramen s.Avellis' s 2. the depression in the anterior part of the neck just superior to the jugular notch of the manubrium sterni.
Kallmann's s.hypogonadism with anosmia
Kanner's s.infantile autism
Kartagener's s. [MIM*244400] complete situs inversus associated with bronchiectasis and chronic sinusitis associated with ciliary dysmotility and impaired ciliary mucous transport in the respiratory epithelium; autosomal recessive inheritance with variable penetrance. The mechanism of the reversal of laterality remains an enigma, but it appears to be strictly an abolition (indifference) of laterality rather than a true reversal. See also immotile cilia s.Kartagener's triad, Zivert s;
Kasabach-Merritt s.capillary hemangioma associated with thrombocytopenic purpura; bleeding commonly develops in the first year of life.hemangioma-thrombocytopenia s;
Katayama s.schistosomiasis japonica
Kawasaki's s.mucocutaneous lymph node s
Kearns-Sayre s. [MIM*165100] a form of chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss; a sporadically ocurring mitochondrial myopathy presenting in childhood.
Kennedy's s.ipsilateral optic atrophy with central scotoma and contralateral choked disk or papilledema, caused by a meningioma of the ipsilateral optic nerve.Foster Kennedy's s;
Key-Gaskell s.canine dysautonomia
Kimmelstiel-Wilson s.nephrotic syndrome and hypertension in diabetics, associated with diabetic glomerulosclerosis.Kimmelstiel-Wilson disease;
Kleine-Levin s. [MIM*148840] a rare form of periodic hypersomnia associated with bulimia, occurring in males aged 10 to 25 years, characterized by periods of ravenous appetite alternating with prolonged sleep (as long as 18 hours), along with behavioral disturbances, impaired thought processes, and hallucinations; acute illness or fatigue may precede an episode, which may occur as often as several times a year.
Klinefelter's s.a chromosomal anomaly with chromosome count 47, XXY sex chromosome constitution; buccal and other cells are usually sex chromatin-positive; patients are male in development but have seminiferous tubule dysgenesis, elevated urinary gonadotropins, variable gynecomastia, and eunuchoid habitus; some patients are chromosomal mosaics, with two or more cell lines of different chromosome constitution; the male tortoise-shell cat (calico cat) is an animal model.XXY s;
Klippel-Feil s. [MIM*148900] a congenital defect manifested as a short neck, extensive fusion of the cervical vertebrae, and abnormalities of the brainstem and cerebellum.cervical fusion s;
Klippel-Trenaunay-Weber s. [MIM*149000] an anomaly of the extremity in which there is a combination of angiomatosis and anomalous development of the underlying bone and muscle, sometimes associated with localized gigantism.angio-osteohypertrophy s., congenital dysplastic angiectasia, hemangiectatic hypertrophy;
Dejerine-Klumpke s.Klumpke palsy
Klüver-Bucy s.a s. characterized by psychic blindness or hyperreactivity to visual stimuli, increased oral and sexual activity, and depressed drive and emotional reactions; reported in monkeys after bilateral temporal lobe ablation, but rarely reported in humans.
Kniest s. [MIM*156550, 245190, 245160] a type of metatropic dwarfism with short limbs, round face with central depression, enlargement and stiffness of joints, contracture of fingers, and often cleft palate, scoliosis, retinal detachment and myopia, and deafness; autosomal dominant inheritance.
Kocher-Debré-Sémélaigne s.autosomal recessive inherited athyrotic cretinism associated with muscular pseudohypertrophy.Debré-Sémélaigne s;
Koenig's s.alternating attacks of constipation and diarrhea, with colic, meteorism, and gurgling in the right iliac fossa, said to be symptomatic of cecal tuberculosis.
Koerber-Salus-Elschnig s.convergence-retraction nystagmus
Kohlmeier-Degos s.vascular occlusive disorder predominantly involving the small arteries of the skin and bowel with about one-fifth of patients having central nervous system symptoms secondary to arterial fibrosis and thrombosis.
Korsakoff's s.an alcohol amnestic s. characterized by confusion and severe impairment of memory, especially for recent events, for which the patient compensates by confabulation; typically encountered in chronic alcoholics; delirium tremens may precede the s., and Wernicke's s. often coexists; the precise pathogenesis is uncertain, but direct toxic effects of alcohol are probably less important than severe nutritional deficiencies often associated with chronic alcoholism.amnestic psychosis, amnestic s. (1) , dysmnesic psychosis, dysmnesic s., Korsakoff's psychosis, polyneuritic psychosis;
Kostmann s.severe infantile agranulocytosis, an inherited disorder of infancy characterized by severe, recurrent infections, and neutropenia.
Kuskokwim s.congenital joint contractures resembling arthrogryposis, found in Eskimos of the Kuskokwim River delta in Alaska.
Laband's s. [MIM*135500 and 135300] fibromatosis of the gingivae associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermotility, and sometimes hepatosplenomegaly; autosomal dominant inheritance.
Labbé's neurocirculatory s.an anxiety neurosis that may occur in Basedow's disease but may be associated with tachycardia and exophthalmos without increase of basal metabolic rate or other evidence of hyperthyroidism.
LAMB s. [MIM*160980] the concurrence of lentigines, atrial myxoma, mucocutaneous myxomas, and blue nevi. See also NAME s.
Lambert-Eaton s. (LES) progressive proximal muscle weakness in patients with carcinoma, in the absence of dermatomyositis or polymyositis; caused by antibodies directed against motor-nerve axon terminals. See myasthenic s.carcinomatous myopathy, Eaton-Lambert s., Lambert's s;
Lambert's s.Lambert-Eaton s
Landau-Kleffner s.childhood generalized and psychomotor seizures associated with acquired aphasia; multifocal spikes and spike and wave discharges in the electroencephalogram.acquired epileptic aphasia;
Landry s.acute idiopathic polyneuritis
Landry-Guillain-Barré s.acute idiopathic polyneuritis
Larsen's s.a s. characterized by multiple congenital dislocations with osseous anomalies, including characteristic flattened facies and cleft soft palate.
Lasègue's s.in conversion hysteria, inability to move an anesthetic limb, except under control of the sight.
lateral medullary s.posterior inferior cerebellar artery s
Launois-Bensaude s.multiple symmetric lipomatosis
Launois-Cléret s.Fröhlich's s
Laurence-Moon-Biedl s. [MIM*245800] mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia; recessive inheritance.
Lawrence-Seip s.lipoatrophy
Lejeune s.cri-du-chat s
Lenègre's s.isolated damage of the cardiac conduction system as a result of a sclerodegenerative lesion; characterized ordinarily as idiopathic fibrosis of the atrioventricular nodal, His bundle, or bundle branches with corresponding conduction block(s).Lenègre's disease;
Lennox s.Lennox-Gastaut s
Lennox-Gastaut s.a generalized myoclonic astatic epilepsy in children, with mental retardation, resulting from various cerebral afflictions such as perinatal hypoxia, cerebral hemorrhage, encephalitides, maldevelopment or metabolic disorders of the brain; characterized by multiple seizure types (generalized tonic, atonic, myoclonic, tonic-clonic, and atypical absence) and background slowing and slow spike and wave pattern on EEG; patients are usually mentally retarded or developmentally delayed.Lennox s;
LEOPARD s.s. consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). An autosomal dominant hereditary disorder.multiple lentigines s;
Leriche's s.aortoiliac occlusive disease producing distal ischemic symptoms and signs.
Leri-Weill s.dyschondrosteosis
Lermoyez' s.increasing deafness, interrupted by a sudden attack of dizziness, after which the hearing improves.labyrinthine angiospasm;
Lesch-Nyhan s. [MIM*308000 several kinds] a disorder, associated with failure to form hypoxanthine phosphoribosyltransferase, characterized by hyperuricemia and uric acid urolithiasis, choreoathetosis, mental retardation, spastic cerebral palsy, and self-mutilation of fingers and lips by biting; X-linked recessive inheritance.
Lev's s.bundle branch block in a patient with normal myocardium and normal coronary arteries resulting from fibrosis or calcification including the conducting system; affects the membranous septum, the apex of the muscular septum, and often the mitral and aortic valve rings.Lev's disease;
Libman-Sacks s.Libman-Sacks endocarditis
Li-Fraumeni cancer s. [MIM*151623 and 191170] familial breast cancer in young women, with soft-tissue sarcomas in children and other cancers in close relatives.
Lignac-Fanconi s.cystinosis
liver kidney s.severe loss of both liver and kidney function, seen in a variety of diseases, often with fatal outcome. Seen particularly in late-stage liver failure due to cirrhosis or hepatitis, and in several viral infections.
locked-in s.basis pontis infarct resulting in tetraplegia, horizontal ophthalmoplegia, dysphagia, and facial diplegia with preserved consciousness; caused by basilar artery occlusion.pseudocoma;
loculation s.Froin's s
Löffler's s. 1. simple pulmonary eosinophilia 2. Löffler's endocarditis
Lorain-Lévi s.pituitary dwarfism
Louis-Bar s.ataxia telangiectasia
Lowe's s.oculocerebrorenal s
Lowe-Terrey-MacLachlan s.oculocerebrorenal s
Lown-Ganong-Levine s.electrocardiographic s. of a short P-R interval with normal duration of the QRS complex; it lacks the slurred delta wave of the Wolff-Parkinson-White s., but resembles it in its frequent association with paroxysmal tachycardia which qualifies it as a s.; otherwise short P-R may occur in otherwise normal individuals.
low salt s., low sodium s.a s. resulting from salt restriction and use of diuretics in treatment of congestive heart failure and hypertension, characterized by weakness, drowsiness, muscle cramps, and a reduction in glomerular filtration with consequent nitrogen retention, renal failure, and sometimes death; occurs also in cirrhosis of the liver with ascites and in adrenal insufficiency.salt depletion s;
lupus-like s.a clinical s. resembling that of systemic lupus erythematosus, but due to some other cause.
Lutembacher's s.a congenital cardiac abnormality consisting of a defect of the interatrial septum, mitral stenosis, and enlarged right atrium.
Lyell's s.toxic epidermal necrolysis
Macleod's s.unilateral lobar emphysema
Mad Hatter s.gastrointestinal and central nervous system manifestations of chronic mercury poisoning, including stomatitis, diarrhea, ataxia, tremor, hyperreflexia, sensorineural impairment, and emotional instability; previously seen in workers in lead manufacturing who put mercury-containing materials in their mouths to make them more pliable. [fr. char. in Alice in Wonderland]
Maffucci's s. [MIM*166000] enchondromatosis with multiple cavernous hemangiomas.dyschondroplasia with hemangiomas;
Magendie-Hertwig s.Magendie-Hertwig sign
malabsorption s.a state characterized by diverse features such as diarrhea, weakness, edema, lassitude, weight loss, poor appetite, protuberant abdomen, pallor, bleeding tendencies, paresthesias, muscle cramps, etc., caused by any of several conditions in which there is ineffective absorption of nutrients, e.g., sprue, gluten-induced enteropathy, gastroileostomy, tuberculosis, and certain fistulas.
malignant carcinoid s.carcinoid s
malignant mole s. [MIM*155600] irregularly shaped, variously colored, distinctively melanocytic, 5 to 10 mm nevi occurring in large numbers (to over 100) primarily on the trunk and extremities, with a high risk of malignancy reported in several members and three generations of a family.
Mallory-Weiss s.laceration of the lower end of the esophagus associated with bleeding, or penetration into the mediastinum, with subsequent mediastinitis; caused usually by severe retching and vomiting.
mandibulofacial dysotosis s.mandibulofacial dysostosis
mandibulo-oculofacial s.dyscephalia mandibulo-oculofacialis
Marañón's s.a s. characterized by ovarian insufficiency, scoliosis, and flat-feet.
Marchiafava-Micheli s.paroxysmal nocturnal hemoglobinuria
Marcus Gunn s.jaw-winking s
Marfan's s. [MIM*154700] a s. of congenital changes in the mesodermal and ectodermal tissues, skeletal changes (arachnodactyly, long limbs, laxness of joints), ectopia lentis, and vascular defects (particularly aneurysm of the aorta, dissecting or diffuse); iris transillumination is marked due to a deficiency of posterior epithelium pigment; autosomal dominant inheritance.Marfan's disease;
Marie-Robinson s.insomnia and mild melancholia associated with alimentary levulosuria.
Marinesco-Garland s. [MIM*268800] a rare neurologic disorder characterized by cerebellolental degeneration with mental retardation; autosomal recessive inheritance.cataract-oligophrenia s., Marinesco-Sjögren s., Torsten Sjögren's s;
Marinesco-Sjögren s.Marinesco-Garland s
Maroteaux-Lamy s. [MIM*253200] an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation; onset occurs after two years of age; autosomal recessive inheritance.polydystrophic dwarfism, type VI mucopolysaccharidosis;
Marshall s. [MIM*154780] s. of mid-face hypoplasia, cataract, sensorineural hearing loss, and hypohidrosis. It is disputed whether this s. is distinct from Stickler's s.
Martorell's s.aortic arch s
MASS s.a s. closely resembling both the Marfan's s. and the Barlow s. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. At present it has been assigned no separate MIM number, but shares that of the Barlow s. [MIM*157700]. [mitral valve prolapse, aortic anomalies, skeletal changes, and skin changes.]
massive bowel resection s.malabsorption following extensive resection of the bowel, particularly the small intestine, characterized by diarrhea, steatorrhea, hypoproteinemia, and malnutrition.
maternal deprivation s.a failure to thrive seen in infants and young children and exhibited as a constellation of physical signs, symptoms, and behaviors, usually associated with maternal loss, absence or neglect, and characterized by lack of responsiveness to the environment and often depression.
Mauriac's s.dwarfism with obesity and hepatosplenomegaly in children with poorly controlled diabetes mellitus.
Mayer-Rokitansky-Küster-Hauser s.primary amenorrhea, absence of vagina, or presence of a short vaginal pouch, and absence of the uterus with normal karyotype and ovaries.Rokitansky-Küster-Hauser s;
May-White s.progressive myoclonus epilepsy with lipomas, deafness, and ataxia; probably a familial form of mitochondrial encephalomyopathy.
McArdle's s.type 5 glycogenosis
McCune-Albright s.polyostotic fibrous dysplasia with irregular brown patches of cutaneous pigmentation and endocrine dysfunction, especially precocious puberty in girls. See also pseudohypoparathyroidism.Albright's disease, Albright's s. (1) ;
Meadows' s.cardiomyopathy developing during pregnancy or the puerperium.
Meckel s.dysencephalia splanchnocystica
Meckel-Gruber s.dysencephalia splanchnocystica
meconium blockage s.low intestinal obstruction in newborn infants resulting from blockage of meconium.
megacystic s.a combination of a large smooth thin-walled bladder, vesicoureteral regurgitation, and dilated ureters.
megacystitis-megaureter s.radiologic findings of a large capacity, thin-walled bladder and massive vesicoureteral reflux, without obstruction or underlying neuropathy or dysfunctional voiding.
megacystitis-microcolon-intestinal hypoperistalsis s.a rare condition characterized by abdominal distention, lax abdominal musculature, incomplete intestinal rotation, and deficient intestinal peristalsis. A large bladder and often vesicoureteral reflux are seen. Typically affects female neonates and usually fatal in first year of life.
Meigs' s.fibromyoma of the ovary associated with hydroperitoneum and hydrothorax.
Melkersson-Rosenthal s. [MIM*155900] cheilitis granulomatosum, fissured tongue, and facial nerve paralysis.
Melnick-Needles s.osteodysplasty
Mendelson's s.pulmonary disorders resulting from aspiration of gastric contents into the lungs following vomiting or regurgitation in obstetrical patients.
Ménétrier's s.Ménétrier's disease
Ménière's s.Ménière's disease
Menkes' s.kinky-hair disease
menopausal s.recurring symptoms experienced by some women during the climacteric period; they include hot flashes, chills, headache, irritability, and depression.climacteric s;
metastatic carcinoid s.carcinoid s
methionine malabsorption s.an inherited disorder in which there is an inability to absorb l-methionine from the gut.
Meyenburg-Altherr-Uehlinger s.relapsing polychondritis
Meyer-Betz s.myoglobinuria
middle lobe s.atelectasis with chronic pneumonitis of the middle lobe of the (right) lung, due to compression of the middle lobe bronchus, usually by enlarged lymph nodes, which may be tuberculous; chief symptoms are chronic cough, wheezing, recurrent respiratory infections, hemoptysis, chest pain, malaise, easy fatigability, and loss of weight; sometimes confused with interlobar accumulation of fluid in the lateral x-ray view.Brock's s;
Mikulicz' s.the symptoms characteristic of Mikulicz' disease occurring as a complication of some other disease, such as lymphoma, leukemia, or uveoparotid fever.
milk-alkali s.a chronic disorder of the kidneys, reversible in its early stages, induced by ingestion of large amounts of calcium and alkali in the therapy of peptic ulcer; can progress to renal failure.Burnett's s;
Milkman's s.osteomalacia with multiple pseudofractures, usually bilateral and symmetrical, may develop true pathologic fractures.
Millard-Gubler s.Gubler's s
minimal-change nephrotic s.nephrotic s. with minimal glomerular changes, occurring most frequently in children, marked by edema, albuminuria, and an increase in cholesterol in the blood, but otherwise with fairly good renal function; tubular epithelium is vacuolated by cholesterol droplets, but the glomeruli show only that the foot processes of the glomerular epithelial cells are fused, probably secondary to the proteinuria; the cause of the increased glomerular permeability to plasma protein is unknown.
Mirizzi's s.benign obstruction of the hepatic ducts due to spasm and/or fibrous scarring of surrounding connective tissue; often associated with a stone in the cystic duct and chronic cholecystitis.
mitral valve prolapse s.the clinical constellation of findings with or without symptoms due to prolapse of the mitral valve: a nonejection systolic click accentuated in the standing posture, sometimes multiple, sometimes with mitral regurgitation occurring relatively late in systole, and accompanied by echocardiographic evidence of the mitral valve prolapse, usually with thickened leaflets of the valve. Symptoms are nonspecific and may include vague chest pains and dyspnea on exertion.billowing mitral valve s;
Möbius' s. [MIM*157900] a developmental bilateral facial paralysis usually associated with oculomotor or other neurological disorders.congenital facial diplegia;
Mohr's s.autosomal recessive, OFD, oral-facial-digital s.
Monakow's s.contralateral hemiplegia, hemianesthesia, and homonomous hemianopsia due to occlusion of the anterior choroidal artery.
Morgagni-Adams-Stokes s.Adams-Stokes s
Morgagni's s. [MIM*144800] hyperostosis frontalis interna in elderly women, with obesity and neuropsychiatric disorders of uncertain cause; at least sometimes familial.metabolic craniopathy, Stewart-Morel s;
morning glory s. [MIM*120330] a funnel-shaped hypoplastic optic nerve with a dot of white tissue at its center; surrounded by an elevated anulus of chorioretinal pigment.
Morquio's s. [MIM*253000] an error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterized by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type IV A mucopolysaccharidosis is due to an absence of galactose-1-sulfatase, while type IV B is due to a deficiency of a beta-galactosidase.Brailsford-Morquio disease, Morquio's disease, Morquio-Ullrich disease, type IVA, B mucopolysaccharidosis;
Morton's s.congenital shortening of the first metatarsal causing metatarsalgia.
Mounier-Kuhn s.tracheobronchomegaly
Mucha-Habermann s.pityriasis lichenoides et varioliformis acuta
Muckle-Wells s. [MIM*191900] a s. characterized by familial amyloidosis, notably involving the kidneys, progressive hearing loss of neural origin and unknown cause, and periods of febrile urticaria associated with pain in joints and muscles of the extremities; autosomal dominant inheritance.
mucocutaneous lymph node s.a polymorphous erythematous febrile, sometimes epidemic, disease of unknown etiology occurring in children, especially under two years of age; accompanied by conjunctivitis, pharyngitis, strawberry tongue, cervical lymphadenopathy, occasionally fatal arteritis with coronary artery aneurysm formation, and characteristic desquamation of perineum, fingers, and toes.Kawasaki's disease, Kawasaki's s;
Muir-Torre s.Torre's s
multiple endocrine deficiency s.acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis.multiple glandular deficiency s;
multiple glandular deficiency s.multiple endocrine deficiency s
multiple hamartoma s.Cowden's disease
multiple lentigines s.LEOPARD s
multiple mucosal neuroma s.multiple submucosal neuromas or neurofibromas of the tongue, lips, and eyelids in young persons; sometimes associated with tumors of the thyroid or adrenal medulla, or with subcutaneous neurofibromatosis.
Munchausen s.repeated fabrication of clinically convincing simulations of disease for the purpose of gaining medical attention; a term referring to patients who wander from hospital to hospital feigning acute medical or surgical illness and giving false and fanciful information about their medical and social background for no apparent reason other than to gain attention. See factitious disorder.
Munchausen s. by proxya form of child maltreatment or abuse inflicted by a caretaker (usually the mother) with fabrications of symptoms and/or induction of signs of disease, leading to unnecessary investigations and interventions, with occasional serious health consequences, including death of the child.
Münchhausen s. See Munchausen s.
myasthenic s. (MS) a disorder of neuromuscular transmission marked primarily by limb and girdle weakness, absent deep tendon reflexes, dry mouth, and impotence; due to an immunological disorder; often, especially in males, a paraneoplastic syndrome linked to small cell carcinoma of the lung.
myeloproliferative s.'s [MIM*159595] a group of conditions that result from a disorder in the rate of formation of cells of the bone marrow, including chronic granulocytic leukemia, erythremia, myelosclerosis, panmyelosis, and erythremic myelosis and erythroleukemia.
myofacial pain-dysfunction s.dysfunction of the masticatory apparatus related to spasm of the muscles of mastication precipitated by occlusal dysharmony or alteration in vertical dimension of the jaws, and exacerbated by emotional stress; characterized by pain in the preauricular region, muscle tenderness, popping noise in the temporomandibular joint, and limitation of jaw motion.temporomandibular joint pain-dysfunction s;
myofascial s.irritation of the muscles and fascia of the back and neck causing acute and chronic pain not associated with any neurological or bony evidence of disease; presumed to arise primarily from poorly understood changes in the muscle and fascia themselves.
Naegeli s. [MIM*161000] reticular skin pigmentation, diminished sweating, hypodontia, and hyperkeratosis of the palms and soles; may be confused with incontinentia pigmenti but is as common in males as in females; autosomal dominant inheritance.Franceschetti-Jadassohn s;
Naffziger s.scalenus-anticus s.
nail-patella s. [MIM*101200] a congenital skeletal disorder characterized by hypoplasia of the patella, iliac horns, dysplasia of the fingernails and toenails, and thickening of the glomerular lamina densa; the lower ends of the femur have a shape very similar to Erlenmeyer flask deformity; autosomal dominant inheritance.
NAME s.the concurrence of nevi, atrial myxoma, myxoid neurofibromas, and ephilides.
Nelson s.a s. of hyperpigmentation, third nerve damage, and enlarging sella turcica caused by pituitary adenomas presumably present before adrenalectomy for Cushing's s. but enlarging and symptomatic afterward.postadrenalectomy s;
nephritic s.the clinical symptoms of acute glomerulonephritis, particularly hematuria, hypertension, and renal failure.
nephrotic s.a clinical state characterized by edema, albuminuria, decreased plasma albumin, doubly refractile bodies in the urine, and usually increased blood cholesterol; lipid droplets may be present in the cells of the renal tubules, but the basic lesion is increased permeability of the glomerular capillary basement membranes, of unknown cause or resulting from glomerulonephritis, diabetic glomerulosclerosis, systemic lupus erythematosus, amyloidosis, renal vein thrombosis, or hypersensitivity to various toxic agents.nephrosis (3) ;
Netherton's s. [MIM*256500] congenital ichthyosiform erythroderma or ichthyosis linearis circumscripta associated with bamboo hair, and irregularly with atopy, urticaria, intermittent aminoaciduria, and mental retardation; probably an autosomal recessive trait that frequently resolves or improves in adolescence.
neural crest s.s. consisting of loss of pain sensibility, autonomic dysfunction, pupillary abnormalities, neurogenic anhidrosis, vasomotor instability, aplasia of dental enamel, meningeal thickening, hyperflexion, and a degree of albinism; may reflect developmental abnormalities of the neural crest.
neurocutaneous s.the occurrence of nevi and sometimes various skeletal deformities with symptoms pointing to gliosis or abiotrophy of the central nervous system.
neuroleptic malignant s.hyperthermia with extrapyramidal and autonomic disturbances which may result in death, following the use of neuroleptic agents.
Nezelof s.cellular immunodeficiency with abnormal immunoglobulin synthesis
Nieden's s.multiple telangiectasis of the face, forearms, and hands, with cataract and aortic stenosis.
Noack's s.acrocephalopolysyndactyly
nonsense s.Ganser's s
Noonan's s. [MIM*163950, MIM*163955] the male phenotype of Turner's s., characterized by congenital heart disease, especially pulmonary stenosis, pigeon breast, webbing of the neck, antimongoloid slanting of the palpebrae, and other less regular minor features; autosomal dominant inheritance. It is equally common in males and in females; hence the alternative designation "Male Turner's s." (because of its similarity to the XO karyotype) is confusing.
Nothnagel's s.dizziness, staggering, and rolling gait, with irregular forms of oculomotor paralysis and often nystagmus, seen in cases of tumor of the midbrain.
nystagmus blockage s.strabismus with eyes and head in a position to minimize associated nystagmus.
OAV s.oculoauriculovertebral dysplasia
occipital horn s.an X-linked recessive disorder in which there is defective biliary excretion of copper resulting in a deficiency of lysyl oxidase causing skin and joint laxity.
ocular-mucous membrane s.Stevens-Johnson s. with associated ocular lesions (conjunctivitis, panophthalmitis, iritis), oral lesions (bullae, erosions, superficial ulcers), and genital lesions (urethritis, balanitis circinata, blebs).
oculobuccogenital s.Behçet's s
oculocerebrorenal s.a congenital s. with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets; X-linked recessive inheritance.Lowe's s., Lowe-Terrey-MacLachlan s;
oculocutaneous s.Vogt-Koyanagi s
oculomandibulofacial s.dyscephalia mandibulo-oculofacialis
oculopharyngeal s. [MIM*106310] a myopathic disorder with a slowly progressive blepharoptosis and dysphagia, beginning late in life; autosomal dominant inheritance; there is also a similar autosomal dominant trait.
oculovertebral s.oculovertebral dysplasia
oculovestibulo-auditory s.a nonsyphilitic interstitial keratitis characterized by an abrupt onset with vertigo and tinnitus followed by deafness; about 50% of patients have an associated systemic disease, most commonly polyarteritis nodosa.Cogan's s;
OFD s.orodigitofacial dysostosis
Ogilvie's s.pseudo-obstruction believed to be the result of motility disturbance involving the large or small intestine but without physical obstruction.
Omenn's s. [MIM*267700] a rapidly fatal autosomal recessive immunodeficiency disease characterized by erythroderma, diarrhea, repeated infections, hepatosplenomegaly, and leukocytosis with eosinophilia.
Oppenheim's s.amyotonia congenita (1)
orbital s.an obsolete term referring to neoplastic tissue formation involving the apex of the orbit, causing ophthalmoplegia and optic nerve atrophy.
organic brain s.a constellation of behavioral or psychological signs and symptoms including problems with attention, concentration, memory, confusion, anxiety, and depression caused by transient or permanent dysfunction of the brain.acute organic brain s., OBS, organic mental s;
organic mental s. (OMS) organic brain s
organic mood s.s. attributed to an organic factor characterized by either depressive or manic mood. See bipolar disorder. See also bipolar disorder.
orofaciodigital s.orodigitofacial dysostosis
osteomyelofibrotic s.myelofibrosis
Ostrum-Furst s.congenital synostosis of the neck.
Othello s.a delusional belief in the infidelity of one's spouse. [Othello, Shakespearian char.]
otomandibular s.otomandibular dysostosis
otopalatodigital s. [MIM*311300] conduction deafness and cleft palate with broad nasal root and frontal bossing, wide spacing of toes, broad thumbs and great toes, and often other signs of generalized bone dysplasia; X-linked recessive inheritance.
ovarian vein s.ureteral obstruction due to compression by enlarged ovarian vein, usually right side and during pregnancy.
pacemaker s.the occurrence of symptoms relating to the loss of atrial-ventricular synchrony in ventricularly paced patients, or symptoms caused by inadequate timing of atrial and ventricular contractions in paced patients.
pachydermoperiostosis s. See pachydermoperiostosis.
Paget-von Schrötter s.stress thrombosis or spontaneous thrombosis of the subclavian or axillary vein; a thoracic-outlet syndrome.effort-induced thrombosis;
painful-bruising s.an intense inflammatory reaction to slight extravasation of blood, due to an allergic sensitivity to red blood cells; more commonly seen in adult women.
paleostriatal s.Hunt's s. (3)
pallidal s.Hunt's s. (3)
Pancoast s.lower trunk brachial plexopathy and Horner s. due to malignant tumor in the region of the superior pulmonary sulcus.
papillary muscle s.papillary muscle dysfunction
Papillon-Léage and Psaume s.orodigitofacial dysostosis
Papillon-Lefèvre s. [MIM*245000] a congenital hyperkeratosis of the palms and soles, with progessive destruction of alveolar bone about the deciduous and permanent teeth beginning as early as 2 years of age, and also with premature exfoliation of teeth; autosomal recessive inheritance.
paraneoplastic s.a s. directly resulting from a malignant neoplasm, but not resulting from the presence of tumor cells in the affected parts.
Parinaud's s.paralysis of conjugate upward gaze with a lesion at the level of the superior colliculi; Bell's phenomenon is present.Parinaud's ophthalmoplegia;
Parinaud's oculoglandular s.unilateral conjunctival granuloma with preauricular adenopathy in tularemia, chancre, and tuberculosis.
Parsonage-Turner s.neuralgic amyotrophy
Patau's s.trisomy 13 s
Paterson-Brown-Kelly s.tendon sheath s
Paterson-Kelly s.Plummer-Vinson s
pathologic startle s.'sa group of disorders characterized by markedly exaggerated startle reflex and other exaggerated stimulus-induced responses. Includes hyperexplexia and probably latah and the jumping Frenchman of Maine s.
Pellizzi's s.macrogenitosomia praecox
Pendred's s. [MIM*274600] a type of familial goiter; congenital nerve deafness with goiter (usually small) due to defective organic binding of iodine in the thyroid; afflicted individuals are usually euthyroid; autosomal recessive inheritance.
Pepper s.obsolete eponym for neuroblastoma of the adrenal gland with metastases in the liver; formerly believed to occur more frequently when the primary tumor was in the right adrenal, whereas tumors of the left adrenal tended to metastasize to the skull (Hutchison's syndrome).
pericolic membrane s.a symptom complex simulating chronic appendicitis, caused by congenital constricting pericolic membranes.
Persian Gulf s.Gulf War s
persistent müllerian duct s.familial disorder with presence of fallopian tube, uterus, and testis in a male. Deficient müllerian inhibitory substance secondary to Sertoli cell defect.hernia uteri inguinale;
pertussis s.pertussis
pertussis-like s.a syndrome characterized by severe episodes of coughing resembling whooping cough (pertussis).
petrosphenoidal s.neoplastic infiltration of the apex of the petrous bone and the anterior part of the foramen lacerum.
Peutz-Jeghers s. [MIM*175200] generalized hamartomatous multiple polyposis of the intestinal tract, consistently involving the jejunum, associated with melanin spots of the lips, buccal mucosa, and fingers; autosomal dominant inheritance.Jeghers-Peutz s., Peutz's s;
Peutz's s.Peutz-Jeghers s
Pfaundler-Hurler s.Hurler's s
Pfeiffer's s. [MIM*101600] type V acrocephalosyndactyly
pharyngeal pouch s.DiGeorge s
phospholipid s.the combination of antiphospholipid antibodies and the presence of either arterial or venous occlusive events such as thrombosis.
Picchini's s.a form of polyserositis involving the three great serosae in contact with the diaphragm, sometimes also the meninges, tunica vaginalis testis, synovial sheaths, and bursae, caused by the presence of a trypanosome.Picchini;
Pick's s.Pick's disease
pickwickian s.a combination of severe, grotesque obesity, somnolence, and general debility, theoretically resulting from hypoventilation induced by the obesity; hypercapnia, pulmonary hypertension and cor pulmonale can result. [after the "fat boy" in Dickens' Pickwick Papers]
Pierre Robin s. [MIM*261800] micrognathia and abnormal smallness of the tongue, often with cleft palate, severe myopia, congenital glaucoma, and retinal detachment; weak evidence of autosomal recessive inheritance.Robin's s;
Pins' s.dullness, diminution of vocal fremitus and of the vesicular murmur, and a slight distant blowing sound, heard in the posteroinferior region of the chest on the left side, in cases of pericardial effusion; there is sometimes also a fine rale in this region, but all the adventitious auscultatory signs disappear when the patient assumes the genupectoral position.
placental dysfunction s.fetal malnutrition and hypoxia resulting from impaired transfer of oxygen and various nutritive materials from mother to fetus.
Plummer-Vinson s.iron deficiency anemia, dysphagia, esophageal web, and atrophic glossitis.Paterson-Kelly s., sideropenic dysphagia;
POEMS s.a condition characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.
Poland's s.an anomaly consisting of absence of the pectoralis major and minor muscles, ipsilateral breast hypoplasia, and absence of two to four rib segments.
polycystic ovary s. [MIM*184700] a condition commonly characterized by hirsutism, obesity, menstrual abnormalities, infertility, and enlarged ovaries; thought to reflect excessive androgen secretion of ovarian origin.sclerocystic disease of the ovary, Stein-Leventhal s;
polyendocrine deficiency s., polyglandular deficiency s.associated pathologic dysfunction of several endocrine glands, as in Schmidt's s.
polysplenia s.bilateral left-sidedness
popliteal entrapment s.a crush s. resulting from compression of the popliteal artery and impairment of its blood flow by structures of the popliteal space.
porcine stress s.malignant hyperthermia
postadrenalectomy s.Nelson s
postcardiotomy s.postpericardiotomy s
postcholecystectomy s.the persistence of signs and symptoms that led to removal of the gallbladder, as a sequel to cholecystectomy.
postcommissurotomy s.postpericardiotomy s
postconcussion s. See posttraumatic s.
posterior inferior cerebellar artery s.a s. due usually to thrombosis, characterized by dysarthria, dysphagia, staggering gait, and vertigo, and marked by hypotonia, incoordination of voluntary movement, nystagmus, Horner's s. on the ipsilateral side, and loss of pain and temperature senses on the side of the body opposite to the lesion.lateral medullary s., Wallenberg's s;
postgastrectomy s.dumping s
postmaturity s.gestation extending 43 weeks or longer; sometimes associated with fetal dysmaturity.
postmyocardial infarction s.a complication developing several days to several weeks after myocardial infarction; its clinical features are fever, leukocytosis, chest pain, and evidence of pericarditis, sometimes with pleurisy and pneumonitis, with a strong tendency to recurrence; probably of immunopathogenetic origin.
postpartum pituitary necrosis s.Sheehan's s
postpericardiotomy s.pericarditis, with or without fever and often in repeated episodes, weeks to months after cardiac surgery.postcardiotomy s., postcommissurotomy s;
postphlebitic s.a state characterized by edema, pain, stasis dermatitis, cellulitis, and varicose veins, and ending in ulceration of the lower leg, developing as a sequel to deep venous thrombosis of the lower extremity.
postrubella s.a group of congenital defects resulting from maternal rubella during the first trimester of pregnancy and including microphthalmos, cataracts, deafness, mental retardation, patent ductus arteriosus, and pulmonary artery stenosis.
postthrombotic s.a s. that follows a vascular thrombosis. Term is usually used to indicate difficulties, such as persistent edema, following venous thrombosis.
posttraumatic s.a clinical disorder that often follows head injury, characterized by headache, dizziness, neurasthenia, hypersensitivity to stimuli, and diminished concentration.traumatic neurasthenia;
posttraumatic neck s.a clinical complex of pain, tenderness, tight neck musculature, vasomotor instability, and ill-defined symptoms such as dizziness and blurred vision as the result of trauma to the neck. Also variously termed occipital or suboccipital neuralgia or neuritis; cervical tension s.; cervical myospasm, myositis, or fibrositis.cervical fibrositis, cervical tension s;
posttraumatic stress s.a disorder appearing after a physically or psychologically traumatic event outside the range of usual human experience, (e.g., a serious threat to one's life or seeing a loved one killed), characterized by symptoms of re-experiencing the event, numbing of responsiveness to the environment, exaggerated startle response, guilt feelings, impairment of memory, and difficulties in concentration and sleep.
Potter's s.renal agenesis with hypoplastic lungs and associated neonatal respiratory distress, hemodynamic instability, acidosis, cyanosis, edema, and characteristic (Potter's) facies; death usually occurs from respiratory insufficiency, which develops before uremia.
Prader-Willi s. [MIM*176270] a congenital s. of unknown etiology characterized by short stature, mental retardation, polyphagia with marked obesity, and sexual infantilism; initially severe muscular hypotonia and poor responsiveness to external stimuli decrease with age; a small deletion is demonstrable in chromosome 15.
precordial catch s.a benign s. of uncertain origin, characterized by sharp, sudden pain in the region of the cardiac apex on inspiration, yet usually relieved by forcing a deeper breath; tenderness is absent.
preexcitation s.Wolff-Parkinson-White s
preinfarction s.abrupt development of angina pectoris or worsening of existing angina by increases in its frequency or severity; sometimes heralds myocardial infarction.
premature senility s.progeria
premenstrual s. (PMS) in women of reproductive age, the regular monthly experience of physiological and emotional distress, usually during the several days preceding menses; characterized by nervousness, depression, fluid retention, and weight gain.late luteal phase dysphoric disorder, menstrual molimina, premenstrual tension s., premenstrual tension; PMS affects about one-third of menstruating women between ages 25 and 40, and some amenorrheic women as well. Its symptoms may only partly be relieved by over-the-counter medications. In extreme cases, progesterone appears effective. Reducing caffeine and salt intake may lessen associated nervousness and depression, and regular exercise and diets high in complex carbohydrates may help minimize the severity of episodes. Before being listed in the revised edition of the DSM-III, PMS became a subject of debate among feminists who believed that it did not qualify as a true disorder. PMS has been used as a successful defense in a murder trial in the U.K.
premenstrual salivary s.glandular abnormalities occurring prior to the onset of menses, including swelling of the breast tissues and enlargement of the salivary glands.
premenstrual tension s.premenstrual s
premotor s.hemiplegia with spasticity, Rossolimo's reflex, but not the Babinski sign, together with forced grasping and vasomotor disturbances.
Proteus s.a sporadic disorder of possible genetic origin, having a variable and changing phenotype; characterized by grossly enlarged hands and feet, distorted abnormal growth, and gigantism of the head; often confused with neurofibromatosis type I.elephant man's disease;
prune belly s.a s. of deficient abdominal muscle, undescended testes, large hypotonic bladder and dilated, tortuous ureters.Eagle-Barrett s;
psychogenic nocturnal polydipsia s., PNP s.emotionally induced excessive water drinking at night.
pterygium s. [MIM*178110, *265000, *312150] webbing of the neck, antecubital fossae, and popliteal fossae with flexion deformities of the extremities and anomalies of the vertebrae; observed in pseudo-Turner's s. and Turner's s.; mendelian inheritance of all those kinds.
pulmonary dysmaturity s.a respiratory disorder occurring in small, premature infants who are incapable of normal pulmonary ventilation and who often die of hypoxia after an illness of 6 to 8 weeks; the lungs contain widespread focal emphysematous blebs and the parenchyma has thickened alveolar walls; diagnosed principally on the basis of the clinical history, chest radiographic findings, and the findings at autopsy, which must include the absence of pathological changes characteristic of other pulmonary disorders commonly encountered in this age group.Wilson-Mikity s;
punchdrunk s.a condition seen in boxers, often years after their retirement, and presumably caused by repeated cerebral injury, characterized by weakness in the lower limbs, unsteadiness of gait, slowness of muscular movements, tremors of hands, dysarthria, and slow cerebration.
Putnam-Dana s.subacute combined degeneration of the spinal cord
radial aplasia-thrombocytopenia s.thrombocytopenia-absent radius s.
radicular s.a group of symptoms resulting from any interference with the intradural portion of one or more spinal nerve roots; the chief symptoms are pain, paresthesia, hypesthesia, or hyperesthesia, motor, trophic, and reflex disturbances.
Raeder's paratrigeminal s.a postganglionic Horner's s. associated with trigeminal nerve dysfunction caused by involvement of the carotid sympathetic plexus, near Mechel' cave.
Ramsay Hunt's s. 1. Hunt's s 2. herpes zoster oticus
Raynaud's s.idiopathic paroxysmal bilateral cyanosis of the digits due to arterial and arteriolar contraction; caused by cold or emotion. See also Raynaud's phenomenon.Raynaud's disease, symmetric asphyxia;
Refetoff s.a condition characterized by goiter and elevated serum level of thyroid hormones without manifestations of thyrotoxicosis, due to target organ unresponsiveness to thyroid hormones.
Refsum's s.Refsum's disease
Reifenstein's s. [MIM*312300, *313700] partial androgen sensitivity; a familial form of male pseudohermaphroditism characterized by varying degrees of ambiguous genitalia or hypospadias, postpubertal development of gynecomastia, and infertility associated with seminiferous tubular sclerosis; cryptorchidism may be present, and Leydig cell hypofunction may lead to impotence in later years; chromosomal studies are usually normal; X-linked recessive or autosomal dominant male-linked trait.
Reiter's s.the association of urethritis, iridocyclitis, mucocutaneous lesions, and arthritis, sometimes with diarrhea; one or more of these conditions may recur at intervals of months or years, but the arthritis may be persistent.Fiessinger-Leroy-Reiter s., Reiter's disease;
REM s.a reticular erythematous dermatitis of the upper trunk, more common in women, in which there is perivascular infiltrate of lymphocytes, few plasma cells, and upper dermal deposits of mucin; worsens on exposure to ultraviolet light.reticular erythematous mucinosis;
Rendu-Osler-Weber s.hereditary hemorrhagic telangiectasia
Renpenning's s. [MIM*309500] x-linked mental retardation with short stature and microcephaly not associated with the fragile X chromosome and occurring more frequently in males, although some females may also be affected.
residual ovary s.the development of a pelvic mass, pelvic pain, and occasionally dyspareunia following hysterectomy without removal of both ovaries.
resistant ovary s.Savage s
respiratory distress s. of the newbornhyaline membrane disease of the newborn
restless legs s.a sense of indescribable uneasiness, twitching, or restlessness that occurs in the legs after going to bed, frequently leading to insomnia, which may be relieved temporarily by walking about; thought to be caused by inadequate circulation or as a side effect of antipsychotic medication. See also akathisia.Ekbom s., restless legs;
retraction s.a retraction of the globe and pseudoptosis on attempted adduction; due to co-innervation of the horizontal recti. Sometimes there is an inability to abduct the affected eye (type 1), or adduct the affected eye (type 2), or both (type 3).Duane's s;
Rett's s. [MIM*312750] a progressive s. of autism, dementia, ataxia, and purposeless hand movements; associated with hyperammonemia, principally in girls.
Reye's s.an acquired encephalopathy of young children that follows an acute febrile illness, usually influenza or varicella infection; characterized by recurrent vomiting, agitation, and lethargy, which may lead to coma with intracranial hypertension; ammonia and serum transaminases are elevated; death may result from edema of the brain and resulting cerebral herniation.
Rh null s. [MIM*269150] a lack of all Rh antigens, compensated hemolytic anemia, and stomatocytosis.
Richards-Rundle s. [MIM*245100] a nervous system disorder beginning in early childhood with congenital severe, progressive sensorineural hearing loss, ataxia, muscle wasting nystagmus, absent deep tendon reflexes, mental retardation, and failure to develop secondary sexual characteristics; autosomal recessive inheritance.
Richter's s.a high-grade lymphoma developing during the course of chronic lymphocytic leukemia; associated with cachexia, pyrexia, dysproteinemia, and lymphomas with multinucleated tumor cells.
Rieger's s. [MIM*180500] iridocorneal mesodermal dysgenesis combined with hypodontia or anodontia and maxillary hypoplasia; autosomal dominant; there is a delayed sexual development and hypothyroidism; there is a deficiency in human growth hormone
right ovarian vein s.a condition characterized by intermittent abdominal pain due to ureteral compression by the right ovarian vein, occurring with most frequency on the right side, and thought to be due to aberrant crossing of the right ovarian vein over the ureter, generally at the level of the first sacral vertebra; dilation of the ovarian vein during pregnancy and unilateral ptosis of the kidney are thought to be contributing factors leading to intermittent ureteral obstruction and recurring bouts of pain and pyelonephritis.
Riley-Day s.familial dysautonomia
Roaf's s.a nonhereditary craniofacial-skeletal disorder characterized by congenital or early retinal detachment, cataracts, myopia, shortened long bones, and mental retardation; sensorineural progressive hearing loss is of later onset.
Roberts s. [MIM*268304] phocomelia or lesser degrees of hypomelia, microbrachycephaly, midfacial defect, prenatal growth deficiency, and cryptorchidism; autosomal recessive inheritance.
Robinow's s.fetal face s
Robin's s.Pierre Robin s
Rokitansky-Küster-Hauser s.Mayer-Rokitansky-Küster-Hauser s
Romano-Ward s. [MIM*192500] a prolonged Q-T interval in the electrocardiogram in children subject to attacks of unconsciousness that result from ventricular arrhythmias including ventricular fibrillation; autosomal dominant inheritance. Cf. Jervell and Lange-Nielsen s. Ward-Romano s;
Romberg's s.facial hemiatrophy
Rothmund's s. [MIM*268400] atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth, hypogonadism; autosomal recessive inheritance.poikiloderma atrophicans and cataract, poikiloderma congenitale, Rothmund-Thomson s;
Rothmund-Thomson s.Rothmund's s
Rotor's s.jaundice appearing in childhood due to impaired biliary excretion; most of the plasma bilirubin is conjugated, liver fraction tests are usually normal, and there is no hepatic pigmentation.
Roussy-Lévy s.Roussy-Lévy disease
Rubinstein-Taybi s. [MIM*180849] mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; may be submicroscopic chromosomal defect.
Rud's s. [MIM*308200] ichthyosiform erythroderma associated with acanthosis nigricans, dwarfism, hypogonadism, and epilepsy; mostly sporadic, but may be an X-linked recessive trait.
runting s. (run´ting) if newborn mice are thymectomized, they do not gain weight and their lymphoid tissue atrophies.wasting s. (1) ;
Russell's s.failure of infants and young children to thrive due to suprasellar lesions, commonly astrocytomas of the anterior third ventricle; although the growth hormone may be elevated, the child is emaciated and has loss of body fat. See also pseudohydrocephaly.
Saethre-Chotzen s.type III acrocephalosyndactyly
Sakati-Nyhan s.acrocephalopolysyndactyly
salt depletion s.low salt s
salt-losing s.salt-losing nephritis
Samter's s.a triad of asthma, nasal polyps, and aspirin intolerance.
Sanchez Salorio s.a s. characterized by retinal pigmentary dystrophy, cataract, hypotrichosis of the lashes, mental deficiencies, and retarded somatic development.
Sanfilippo's s. [MIM*252900-*252960] an error of the mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine and severe mental retardation with hepatomegaly; skeleton may be normal or may present mild changes similar to those in Hurler's s.; several different types (A, B, C, and D) have been identified according to the enzyme deficiency; autosomal recessive inheritance.type III mucopolysaccharidosis;
Savage s.obsolete term for amenorrhea associated with hypergonadotrophism and normal ovarian follicles.resistant ovary s; [after the surname of the first reported patient]
scalded skin s. See staphylococcal scalded skin s.
scalenus anterior s.one of the precursors of disputed neurogenic thoracic outlet s.; a popular cause for upper extremity discomfort in the late 1930s and 1940s, based on the unproven concept that the lower trunk and brachial plexus and subclavian artery could be compressed in the intrascalene triangle by hypertrophic scalenus anticus muscle, the compression in turn affecting the nerves to it and setting up a vicious circle; this concept was essentially abandoned in the 1950s, when real causes, such as cervical radiculopathy and carpal tunnel syndrome, for upper extremity symptoms were appreciated, but resurrected in the 1980s, without attribution, as etiology for upper plexus type of disputed neurologic thoracic outlet syndrome.
scapulocostal s.pain of insidious development in the upper or posterior part of the shoulder radiating into the neck and occiput, down the arm, or around the chest; there may be numbness or tingling in the fingers; attributed to an alteration from the normal relationship between the scapula and posterior wall of the thorax.
Schanz s.spinal muscle weakness, marked by quick fatigue, pain on pressure over the spinous processes, pain produced by the prone position, and a tendency to curvature of the spine.
Schaumann's s.sarcoidosis
Scheie's s. [MIM*252800] related to Hurler's s.,perhaps an allele; characterized by a-l-iduronidase deficiency, corneal clouding, deformity of the hands, aortic valve involvement, and normal intelligence; autosomal rescessive.type IS mucopolysaccharidosis;
Schmid-Fraccaro s.cat's-eye s
Schmidt's s. 1. unilateral paralysis of a vocal cord, the velum palati, trapezius, and sternocleidomastoid. [J. F. M. Schmidt] 2. the association of primary hypothyroidism, primary adrenocortical insufficiency, and insulin-dependent diabetes mellitus. [M. B. Schmidt]
Schönlein-Henoch s.Henoch-Schönlein purpura
Schüller's s.Hand-Schüller-Christian disease
Schwartz s. [MIM*255800] a congenital disorder characterized by myotonic myopathy, dystrophy of epiphyseal cartilages resulting in dwarfism, joint contractures, blepharophimosis, and characteristic facies; autosomal recessive inheritance.
Seckel s. [MIM*210600] an autosomal recessive disorder characterized by low birth weight, dwarfism, microcephaly, large eyes, beaked nose, receding mandible, and moderate mental retardation.Seckel dwarfism;
Secrétan's s.factitious, traumatic, recurrent edema or hemorrhage of the dorsum of the hand.
Senear-Usher s.pemphigus erythematosus
Sertoli-cell-only s. [MIM*305700] the absence from the seminiferous tubules of the testes of germinal epithelium, Sertoli cells alone being present; there is sterility due to azoospermia but no other sexual abnormality, Leydig cells are normal, and the output of gonadotrophins in the urine is increased; probably represents one form of seminiferous tubule dysgenesis.Del Castillo s;
Sézary s.exfoliative dermatitis with intense pruritus, resulting from cutaneous infiltration by atypical mononuclear cells (T lymphocytes with markedly convoluted or cerebriform nuclei) also found in the peripheral blood, and associated with alopecia, edema, and nail and pigmentary changes; a variant of mycosis fungoides.Sézary erythroderma;
Sheehan's s.hypopituitarism arising from a severe circulatory collapse postpartum, with resultant pituitary necrosis.postpartum pituitary necrosis s., thyrohypophysial s;
Shone's s.the association of obstructive lesions of the mitral valve complex, including supravalvar ring and parachute mitral valve, with left ventricular outflow obstruction and coarctation of the aorta.
short-bowel s.malabsorption and maldigestion resulting from disease or resection of large portions of the small intestine.
shoulder-girdle s.neuralgic amyotrophy
shoulder-hand s.reflex sympathetic dystrophy
Shulman's s.eosinophilic fasciitis
Shwachman s. [MIM*260400] an inherited disorder, autosomal recessive, characterized by sinusitis and bronchiectasis with pancreatic insufficiency, resulting in malnutrition; associated with neutropenia and defect in neutrophile chemotaxis, short stature, and bone abnormalities.
Shy-Drager s. [MIM*146500] a progressive disorder involving the autonomic system, characterized by hypotension, external ophthalmoplegia, iris atrophy, incontinence, anhidrosis, impotence, tremor, and muscle wasting.
sicca s.Sjögren's s
sick building s.a s. of nonspecific symptoms including fatigue, headache, dry eyes and throat, and nasal problems, occurring mostly in office workers; attributed to low-level exposures to substances used in building and interior construction; most symptoms lessen during off-work periods.
sick euthyroid s.euthyroid sick s
sick sinus s. [MIM*182190] symptoms ranging from dizziness to unconsciousness due to chaotic or absent atrial activity often with bradycardia alternating with tachycardia, recurring ectopic beats including escape beats, and runs of supraventricular and ventricular arrhythmias.
Silver-Russell s. [MIM*270050] a disorder characterized by low birth weight, late closure of the anterior fontanel, bilateral bodily asymmetry, clinodactyly of the fifth fingers, triangular facies, and carp mouth; little useful genetic evidence.Silver-Russell dwarfism;
Silverskiöld's s.a type of osteochondrodystrophy with only slight vertebral changes but with shortened and curved long bones of the extremities.
sinus venosus s.the association of partial anomalous, pulmonary-venous connection, and a small venosus ASD.
Sipple's s. [MIM*171400] pheochromocytoma, medullary carcinoma of the thyroid, and neural tumors; autosomal dominant inheritance.multiple endocrine neoplasia, type 2;
Sjögren-Larsson s. [MIM*270200] congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance.
Sjögren's s.keratoconjunctivitis sicca, dryness of mucous membranes, telangiectasias or purpuric spots on the face, and bilateral parotid enlargement, seen in menopausal woman, and often associated with rheumatoid arthritis, Raynaud's phenomenon, and dental caries; there are changes in the lacrimal and salivary glands resembling those of Mikulicz' disease.Gougerot-Sjögren disease, sicca s., Sjögren's disease; [H. S. C. Sjögren]
sleep apnea s.a disorder characterized by multiple episodes of partial or complete cessation of respiration during sleep.
sleep phase delay s.a disorder in which the circadian rhythm of sleep and waking falls into a delayed but stable relationship with external time cues of day and night.
SLE-like s.a disease with manifestations suggestive of systemic lupus erythematosus, without meeting diagnostic criteria for that disease; sometimes used for drug-induced lupus.
slit ventricle s.in shunt dependent patients, a state characterized by intermittent or chronic headaches, small ventricles, and slow reflux of the valve mechanism.
Sly s.an autosomal recessive disorder due to a deficiency of a beta-glucuronidase; defective lysosomal degradation of dermatan sulfate, heparan sulfate, and chondroitin sulfate; cellular function disrupted in most tissues.type VII mucopolysaccharidosis, type VIII mucopolysaccharidosis;
Smith-Lemli-Opitz s. [MIM*270400] mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes, often in breech-born babies with delayed fetal activity; inherited as an autosomal recessive trait.
Smith-Riley s.multiple hemangiomas, macrocephaly, and blurred optic disks; angiomas appear at birth or later, and enlarge and multiply.
Sneddon's s.a cerebral arteriopathy of unknown etiology, characterized by noninflammatory intimal hyperplasia of medium-sized vessels associated with diffuse cutaneous livedo reticularis.
Sohval-Soffer s. [MIM 307500 and MIM 307300] hypogonadism, gynecomastia, skeletal anomalies, and mental retardation without chromosomal abnormality.
Sorsby's s.congenital macular coloboma and apical dystrophy of the extremities.
Sotos' s. [MIM*117550] cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology. Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record.
space adaptation s.alterations in normal physiology that occur during prolonged exposure to weightlessness, unless preventive measures are taken. Characterized by muscle atrophy, loss of mineral from bones, cardiovascular changes, etc.
spastic s. in cattlea disease of the nervous system manifested by spastic contractions of the muscles of one or both hind legs, most common in old bulls; the cramps usually become more frequent and severe, eventually resulting in decreasing the usefulness of the animal.
Spens' s.Adams-Stokes s
splenic flexure s.symptoms of pain, gas, bloating, a sense of fullness experienced in the left upper abdominal quadrant, sometimes beneath the ribs, in some instances radiating upward, and in some instances producing anterior chest pain central or predominantly on the left. It may be induced experimentally by the introduction and trapping of air in the splenic flexure.
staphylococcal scalded skin s.a disease affecting infants in which large areas of skin peel off, as in a second-degree burn, as a result of upper respiratory staphylococcal infection even though the skin lesions are sterile; the level of skin separation is subcorneal, unlike a burn or the clinically similar toxic epidermal necrolysis which occurs in children and adults and which involves subepidermal cleavage.Lyell's disease;
Stauffer's s.elevation of liver function tests, in the absence of metastatic disease, due to cholestasis in renal cell cancer patients.
Steele-Richardson-Olszewski s.progressive supranuclear palsy
Stein-Leventhal s.polycystic ovary s
steroid withdrawal s.a condition exhibited by persons who previously had been receiving large therapeutic doses of glucocorticoid hormones for long periods of time; pituitary-adrenocortical insufficiency is manifested, particularly during stress, for as long as a year or more thereafter and varying degrees of emotional disturbance may be exhibited.
Stevens-Johnson s.a bullous form of erythema multiforme which may be extensive, involving the mucous membranes and large areas of the body; it may produce serious subjective symptoms and may have a fatal termination. See also ocular-mucous membrane s.ectodermosis erosiva pluriorificialis, erythema multiforme bullosum, erythema multiforme exudativum, erythema multiforme major;
Stewart-Morel s.Morgagni's s
Stewart-Treves s.angiosarcoma arising in arms affected by postmastectomy lymphedema.
Stickler's s.hereditary progressive arthro-ophthalmopathy
stiff heart s.any condition, usually acute, that causes the heart to be restricted in diastole mainly affecting the ventricles and at one time a complication of cardiac surgery.
stiff-man s.a chronic, progressive, but variable, central nervous system disorder of unknown cause, associated with fluctuating painful muscle spasm and rigidity involving muscles of the limbs, trunk, and neck.
Still-Chauffard s.Chauffard's s
Stockholm s.a form of bonding between a captive and captor in which the captive begins to identify with, and may even sympathize with, the captor. [Stockholm, Sweden, where early case reported]
Stokes-Adams s.Adams-Stokes s
straight back s.loss of the normal concavity of the thoracolumbar spine with a narrowed anteroposterior chest dimension, resulting compression of the heart between spine and sternum, and consequent prominent precordial pulsations, an ejection murmur, and radiologic evidence of a widened cardiac silhouette (pancaked heart).
Stryker-Halbeisen s.reddish, scaling, macular eruption on the head and upper trunk due to vitamin B complex deficiency; associated with macrocytic anemia.
Sturge-Kalischer-Weber s.Sturge-Weber s
Sturge-Weber s. [MIM*185300] in full, a triad of 1) congenital cutaneous angioma (flame nevus) in the distribution of the trigeminal nerve, usually unilateral; 2) homolateral meningeal angioma with intracranial calcification and neurologic signs; and 3) angioma of the choroid, often with secondary glaucoma. See also encephalotrigeminal vascular s.cephalotrigeminal angiomatosis, encephalotrigeminal angiomatosis, Sturge-Kalischer-Weber s., Sturge-Weber disease;
subclavian steal s.symptoms of vertebrobasilar insufficiency resulting from subclavian steal.
subcoracoid-pectoralis minor tendon s.hyperabduction s
sudden infant death s. (SIDS) abrupt and inexplicable death of an apparently healthy infant; various theories have been advanced to explain such deaths (e.g., sleep-induced apnea, laryngospasm, overwhelming infectious disease) but none has been generally accepted or demonstrated at autopsy.cot death, crib death;
Sudeck's s.Sudeck's atrophy
Sulzberger-Garbe s.Sulzberger-Garbe disease
sump s.a complication of side-to-side choledochoduodenostomy in which the lower end of the common bile duct at times acts as a diverticulum, resulting in stasis, trapping of food particles, and infection.
superior cerebellar artery s.s. due to thrombosis of the superior cerebellar artery which supplies the spinothalamic tract and the superior cerebellar peduncle; there is incoordination in performing skilled movements, with loss of pain and temperature senses on the side of the face and body opposite to that of the lesion.
superior mesenteric artery s.partial or complete block of the superior mesenteric artery, with pain, vomiting, blood in the stool and/or vomitus, and abdominal distention with characteristic radiologic appearance (thumbprinting); often culminates in bowel infarction.Wilkie's disease;
superior vena cava s.obstruction of the superior vena cava or its main tributaries by benign or malignant lesions, causing edema and engorgement of the vessels of the face, neck, and arms, nonproductive cough, and dyspnea; bluish looking venous stars may be found in the early phases, overlying the large veins to which they are tributary, but they tend to diminish in size and disappear after collateral circulation has been reestablished.
supine hypotensive s.in the supine pregnant woman at or near term, maternal hypotension; maternal hypotension is due to obstruction by the gravid uterus of the inferior vena cava with resulting decrease in venous return to the heart; fetal hypoxia is due to maternal hypotension and obstruction of the maternal aorta by the gravid uterus with resulting decrease in placental perfusion.
supraspinatus s.pain on abduction of the shoulder and tenderness upon deep pressure over the supraspinatus tendon; due to pressure of an injured tendon or inflamed subacromial bursa coming into contact or pressing upon the overlying acromial process when the arm is abducted within an arc of 60° to 120°.
supravalvar aortic stenosis s. [MIM*185500] supravalvar aortic stenosis (usually membranous) sometimes associated with pulmonary valvular or peripheral arterial stenosis but with normal facies and mentality; autosomal dominant inheritance. Cf. Williams s.
supravalvar aortic stenosis-infantile hypercalcemia s. [MIM*194050] supravalvar aortic stenosis associated with elfin facies, mental retardation, and hypercalcemia; usually sporadic; perhaps an irregular dominant trait.
surdocardiac s.Jervell and Lange-Nielsen s
sweaty feet s.isovaleric acidemia
swollen belly s.swollen belly disease
swollen head s.a disease of chickens caused by the turkey rhinotracheitis virus.
Swyer-James s. 1. unilateral lobar emphysema 2. hyperlucency of one lung from obliterating bronchiolitis, usually caused by adenovirus infection in childhood, with decreased size and vascularity of the lung; distinguished from other causes of unilateral hyperlucency by demosntration of air trapping without central obstruction.Swyer-James-MacLeod s;
Swyer-James-MacLeod s.Swyer-James s
tachybradycardia s.bradytachycardia s
tachycardia-bradycardia s.alternating periods of slow and rapid heart beat; often associated with disturbances of both sinoatrial and atrioventricular conduction. See also sick sinus s.
Takayasu's s.Takayasu's arteritis
Tapia's s.unilateral paralysis of the larynx, the velum palati, and the tongue, with atrophy of the latter.
tarsal tunnel s.s. produced by entrapment neuropathy of terminal branches of posterior tibial nerve (medial plantar, lateral plantar, and calcanial nerves) at the ankle.
Taussig-Bing s.complete transposition of the aorta, which arises from the right ventricle, with a left sided pulmonary artery overriding the left ventricle, and with high ventricular septal defect, right ventricular hypertrophy, anteriorly situated aorta, and posteriorly situated pulmonary artery.Taussig-Bing disease;
tegmental s.a s. usually caused by a vascular lesion in the tegmentum; marked by contralateral hemiplegia and ipsilateral ocular paresis.
temporomandibular s.those various symptoms of discomfort, pain, or pathosis stated to be caused by loss of vertical dimension, lack of posterior occlusion, or other malocclusion, trismus, muscle tremor, arthritis, or direct trauma to the temporomandibular joint.
temporomandibular joint pain-dysfunction s.myofacial pain-dysfunction s
tendon sheath s.limited elevation of the eye in adduction, appearing clinically as a paresis of the inferior oblique muscle, due to fascia contracting the superior oblique muscle on the same side.Brown's s., Paterson-Brown-Kelly s;
Terry's s.retinopathy of prematurity
testicular feminization s. [MIM*313700] a type of male pseudohermaphroditism characterized by female external genitalia (may be ambiguous if the s. is incomplete), incompletely developed vagina often with rudimentary uterus and fallopian tubes, female habitus at puberty but with scanty or absent axillary and pubic hair and amenorrhea, and testes present within the abdomen or in the inguinal canals or labia majora; epididymis and vas deferens are usually present; androgens and estrogens are formed, but target tissues are largely unresponsive to androgens; individuals are sex chromatin-negative and have a normal male karyotype; X-linked recessive inheritance; there is a defect in the androgen receptor protein.
tethered cord s.abnormal low positioning (below the L2 vertebrae) of the distal spinal cord (conus medullaris) by the filum terminale. May be associated with incontinence, progressive motor and sensory impairment in the legs, pain, and scoliosis.
thalamic s.a s. produced by infarction of the postero-inferior thalamus causing transient hemiparesis, severe loss of superficial and deep sensation with preservation of crude pain in the hypalgic limbs which frequently have vasomotor or trophic disturbances.Dejerine-Roussy s;
Thiemann's s.avascular necrosis of the epiphyses of phalanges of fingers or toes, usually familial, beginning in childhood or adolescence, leading to deformity of fingers; also called familial arthropathy of the fingers or toes.Thiemann's disease;
third and fourth pharyngeal pouch s.DiGeorge s
thoracic outlet s. (TOS) collective title for a number of conditions attributed to compromise of blood vessels or nerve fibers (brachial plexus) at any point between the base of the neck and the axilla; formerly classified on the basis of presumed injurious structure or mechanism, i.e., scalenus anticus syndrome, hyperabduction syndrome, costoclavicular syndrome; currently classified on the basis of the structure known or presumed to be compromised, and divided into two main groups: vascular and neurologic (simultaneous compromise of both neural and vascular structures is rare); vascular subdivisions include arterial and venous, while neurological subdivisions include true and disputed.
Thorn's s.salt-losing nephritis
thrombocytopenia-absent radius s., TAR s. [MIM*270400] congenital absence of the radius associated with thrombocytopenia that is symptomatic in infancy but later improves; congenital heart disease and renal anomalies occur in some cases; autosomal recessive inheritance.
thrombopathic s.a nondescript term to describe any of a number of bleeding diseases in which clot formation is deficient rather than those in which there is an organic fault of the blood vessels.
thyrohypophysial s.Sheehan's s
Tietze's s.inflammation and painful, tender nonsuppurative swelling of a costochondral junction.peristernal perichondritis;
Tolosa-Hunt s.cavernous sinus s. produced by an idiopathic granuloma.
tooth-and-nail s. [MIM*189500] hypodontia associated with absent or very small nails at birth. Common among Dutch Mennonites in Canada.
TORCH s.a group of infections with similar clinical manifestations, although symptoms may vary in degree and time of appearance: toxoplasmosis, other infections, rubella, cytomegalovirus infection, and herpes simplex. These infections might be associated with underlying HIV infection.
Tornwaldt's s.nasopharyngeal discharge, occipital headache, and stiffness of posterior cervical muscles, with halitosis due to chronic infection of the pharyngeal bursa.
Torre's s.multiple sebaceous gland neoplasms associated with multiple visceral malignancies.Muir-Torre s;
Torsten Sjögren's s.Marinesco-Garland s
Tourette s.a tic disorder appearing in childhood, characterized by multiple motor tics and vocal tics present for more than one year. Obsessive-compulsive behavior, attention-deficit disorder, and other psychiatric disorders may be associated; coprolalia and echolalia rarely occur; autosomal dominant inheritance.Gilles de la Tourette's disease, Gilles de la Tourette's s., Tourette's disease;
toxic shock s. (TSS) infection with toxin-producing staphylococci, occurring most often in the vagina of menstruating women using superabsorbent tampons and characterized by high fever, vomiting, diarrhea, a scarlatiniform rash followed by desquamation, and decreasing blood pressure and shock, which can result in death; hyperemia of the conjunctival, oropharyngeal, and vaginal mucous membranes also occurs.
transplant lung s.a s. associated with fever and diffuse bilateral pulmonary infiltration mainly at the base or at the hilum of the lung; can accompany rejection of an organ (kidney) transplant or follow a reduction in dosage of an immunosuppressive drug.
transurethral resection s.absorption of glycine from irrigation solution during TUR that the liver cannot metabolize, resulting in increased serum ammonia.TUR s;
Treacher Collins' s. [MIM*154500] mandibulofacial dysostosis, when limited to the orbit and malar region.
trichorhinophalangeal s.a condition characterized by sparse fine hair, broad nose with a long philtrum, swollen middle phalanges with cone-shaped epiphyses, and growth retardation. There seems to be at least three similar disorders, two dominant [MIM*150230, 190350] and one recessive [MIM*275500].
triple X s.in principle, the phenotypic features characteristic of trisomy of the X chromosome. Original observations (made in mental institutions) were seriously biased and the phenotypic changes spurious; now, even the remaining claim, that there is mild mental retardation, is suspect. The outstanding feature of the s. is the occurence of twin Barr bodies in a typical cell.
trisomy 8 s.craniofacial dysmorphia, short wide neck but narrow cylindrical trunk, and multiple joint and digital defects.
trisomy 13 s.a s. that is usually fatal within two years; characterized by mental retardation and malformed ears in all patients, and in most patients cleft lip or palate, microphthalmia or coloboma, small mandible, polydactyly, cardiac defects, convulsions, renal anomalies, umbilical hernia, malrotation of intestines, and dermatoglyphic anomalies.Patau's s., trisomy D s;
trisomy 18 s.a s. that is usually fatal within two to three years; characterized by mental retardation, abnormal skull shape, lowset and malformed ears, small mandible, cardiac defects, short sternum, diaphragmatic or inguinal hernia, Meckel's diverticulum, abnormal flexion of fingers, and dermatoglyphic anomalies.Edwards' s;
trisomy 20 s.profound mental retardation with coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary dysplasia of the skin, dorsal kyphoscoliosis, and other skeletal defects.
trisomy 21 s.Down's s
trisomy C s.trisomy for any chromosome of group C, numbers 6 through 12, most often number 8.
trisomy D s.trisomy 13 s
trochanteric s.tendonitis and bursitis around the trochanter major.
tropical splenomegaly s.hyperreactive malarious splenomegaly
Trousseau's s. 1. gastric vertigo 2. thrombophlebitis migrans associated with visceral cancer.
true neurogenic thoracic outlet syndromevery chronic axon loss brachial plexopathy, caused by compromise of the lower trunk fibers by a congenital band extending from a rudimentary cervical rib to the first thoracic rib; rare disorder, found mostly in young to middle-aged women, that presents with unilateral hand wasting and weakness, particularly involving the lateral thenar eminence; sometimes accompanied by intermittent discomfort along the medial forearm and hand.cervical rib and band s., classic cervical rib s;
tumor lysis s.hyperphosphatemia, hypocalcemia, hyperkalemia, and hyperuricemia following induction chemotherapy of malignant neoplasms; believed to be due to the release of intracellular products by cell lysis.
TUR s.transurethral resection s
Turcot s. [MIM*276300] a rare and perhaps distinct form of multiple intestinal polyposis in which brain tumors are present; probably autosomal recessive trait.
Turner's s.a s. with chromosome count 45 and only one X chromosome; buccal and other cells are usually sex chromatin-negative; anomalies include dwarfism, webbed neck, valgus of elbows, pigeon chest, infantile sexual development, and amenorrhea; the ovary has no primordial follicles and may be represented only by a fibrous streak; some individuals are chromosomal mosaic, with two or more cell lines of different chromosome constitution; seen in many animal species, in the meadow vole it is the normal female state.XO s;
twiddler's s.condition in which a cardiac pacemaker wire is pulled out of position in the heart with rotation of the subcutaneous pacemaker by the patient's "twiddling."
Uhthoff s.Uhthoff symptom
Ullmann's s.a systemic angiomatosis due to multiple arteriovenous malformations.
Ulysses s.the ill effects of extensive diagnostic investigations conducted because of a false-positive result in the course of routine laboratory screening. [L. Ulysses, fr. G. Odysseus, myth. char.]
unroofed coronary sinus s.a spectrum of cardiac anomalies in which part or all of the common wall between the coronary sinus and the left atrium is absent.
urethral s.a condition of no certain etiology, characterized by urinary frequency, urgency, dysuria in the absence of specific infection, obstruction, or dysfunction. Suprapubic pain, hesitancy, and back pain may also occur. Usually seen in females.female urethral s;
Usher's s. [MIM*276900 and *270901] autosomal recessive inheritance; the two forms are distinguishable only by linkage data; causing sensorineural heraring loss and retinitis pigmentosa.
uveocutaneous s.Vogt-Koyanagi s
uveo-encephalitic s.Behçet's s
uveomeningitis s.Harada's s
VACTERL s.abnormalities of vertebrae, anus, cardiovascular tree, trachea, esophagus, renal system, and limb buds associated with administration of sex steroids during early pregnancy.
van Buchem's s. [MIM*239100] an inherited skeletal dysplasia, with mandibular enlargement and thickening of the diaphyses and calvaria, and increased serum alkaline phosphatase; autosomal recessive inheritance.generalized cortical hyperostosis;
van der Hoeve's s.a subtype of osteogenesis imperfecta in which progressive conductive hearing loss begins in childhood because of stapedial fixation.
vanished testis s.absence of both testes in a male with normal chromosomes (XY) and otherwise normal genitalia at birth and during childhood. Testes were present in at least the first trimester of gestation, but vanished sometime thereafter.
vanishing lung s.progressive decrease of radiographic opacity of the lung caused by accelerated development of emphysema or rapid cystic destruction of the lung from infection.
vasculocardiac s. of hyperserotonemiaobsolete term for carcinoid s.
vasovagal s.vagal attack
Verner-Morrison s.watery diarrhea, hypokalemia, and achlorhydria associated with secretion of vasoactive intestinal polypeptide by a pancreatic islet-cell tumor in the absence of gastric hypersecretion.WDHA s;
Vernet's s.a s. characterized by paralysis of the motor components of the glossopharyngeal, vagus, and accessory cranial nerves as they lie in the posterior fossa; it is most commonly the result of head injury.
vertical retraction s. See retraction s.
vibration s.tingling, numbness, and blanching of the fingers resulting from use of hand-held vibration tools; may persist without further exposure to vibration.
virus-associated hemophagocytic s.a s. closely resembling malignant histiocytosis but potentially reversible, following a herpes group virus infection such as by the Epstein-Barr virus.
vitreoretinal choroidopathy s. [MIM*193220] an ocular condition characterized by peripheral pigmentary retinopathy, retinal vascular abnormalities, vitreous opacities, choroidal atrophy, and presenile cataracts; autosomal dominant inheritance.
vitreoretinal traction s.traction on the internal limiting membrane of the retina by adherent vitreous fibrils in vitreous humor detachment.
Vogt s.double athetosis [Cècile and Oscar Vogt]
Vogt-Koyanagi s.bilateral uveitis with iritis and glaucoma, premature graying of the hair, and alopecia, vitiligo, and dysacusia; related to Harada's s. and sympathetic ophthalmia.oculocutaneous s., uveocutaneous s;
Vohwinkel s.mutilating keratoderma
von Hippel-Lindau s.a type of phacomatosis, consisting of hemangiomas of the retina, which may be multiple and bilateral, associated with hemangiomas or hemangioblastomas primarily of the cerebellum and walls of the fourth ventricle, occasionally involving the spinal cord; sometimes associated with cysts or hamartomas of kidney, adrenal, or other organs; autosomal dominant inheritance.cerebroretinal angiomatosis, Lindau's disease;
vulnerable child s.a reaction characterized by disturbance in psychosocial development, often occurring in children whose parents expect them to die prematurely.
Waardenburg s. [MIM*193500, MIM*193510] Autosomal dominant disorder characterized by lateral dystopia of medial canthi and lacrimal puncta, increased width of the root of the nose, heterochromia or hypochromia iridis, cochlear deafness, white forelock, and synophrys.
Wagner's s.hyaloideoretinal degeneration
Waldenström's s.Waldenström's macroglobulinemia
Wallenberg's s.posterior inferior cerebellar artery s
Ward-Romano s.Romano-Ward s
wasting s. 1. runting s 2. a condition of 10% weight loss in conjunction with diarrhea or fever lasting over one month. Associated with AIDS.
Waterhouse-Friderichsen s.a condition occurring mainly in children under 10 years of age, characterized by vomiting, diarrhea, extensive purpura, cyanosis, toniclonic convulsions, and circulatory collapse, usually with meningitis and hemorrhage into the adrenal glands.acute fulminating meningococcal septicemia, Friderichsen-Waterhouse s;
WDHA s.Verner-Morrison s [watery diarrhea, hypokalemia, achlorhydria]
weaving s.a behavioral disorder of caged or confined animals where the animal stands in one position but weaves from side to side or rocks back and forth.
Weber-Cockayne s. [MIM*131800] epidermolysis bullosa of the hands and feet.
Weber's s.midbrain tegmentum lesion characterized by ipsilateral oculomotor nerve paresis and contralateral paralysis of the extremities, face, and tongue.Weber's sign;
Weill-Marchesani s. [MIM*277600] ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; recessive autosomal inheritance.
Wells' s.recurrent cellulitis followed by brawny edematous skin lesions, or a less acute presentation of papular, annular, or gyrate skin lesions which are sometimes urticarial; affected skin and subcutis are heavily infiltrated by eosinophils and histiocytes, with scattered small necrotic foci (flame figures) of varied etiology; sometimes follows an arthropod bite.eosinophilic cellulitis;
Werner's s. [MIM*277700] a disorder consisting of scleroderma-like skin changes, bilateral juvenile cataracts, progeria, hypogonadism, and diabetes mellitus; autosomal recessive inheritance.
Wernicke-Korsakoff s.the coexistence of Wernicke's and Korsakoff's s.'s.
Wernicke's s.a condition frequently encountered in chronic alcoholics, largely due to thiamin deficiency and characterized by disturbances in ocular motility, pupillary alterations, nystagmus, and ataxia with tremors; an organic-toxic psychosis is often an associated finding, and Korsakoff's s. often coexists; characteristic cellular pathology found in several areas of the brain.superior hemorrhagic polioencephalitis, Wernicke's disease, Wernicke's encephalopathy;
West's s.an encephalopathy in infancy characterized by infantile spasms, arrest of psychomotor development, and hypsarrhythmia.
Weyers-Thier s.oculovertebral dysplasia
whistling face s.craniocarpotarsal dystrophy
white-out s.a psychosis which occurs in Arctic explorers or others similarly exposed to the stimulus deprivation of a snow-clad environment. See also sensory deprivation.
Widal's s.Hayem-Widal s
Wildervanck s.cervico-oculo-acoustic s
Williams s.a congenital disorder characterized by mental deficiency, mild growth deficiency, elfin facies, supravalvular aortic stenosis, and, occasionally, elevated blood calcium; may be associated with hypersensitivity to vitamin D or excess ingestion of the vitamin during pregnancy. Cf. idiopathic hypercalcemia of infants.
Williams' s.cardiofacial s
Williams-Beurer s.idiopathic hypercalcemia of infants
Wilson-Mikity s.pulmonary dysmaturity s
Wilson's s.Wilson's disease (1)
Wiskott-Aldrich s. [MIM*301000] an X-linked immunodeficiency disorder occurring in male children and characterized by thrombocytopenia, eczema, melena, and susceptibility to recurrent bacterial infections; death occurs from severe hemorrhage or overwhelming infection.Aldrich s;
Wissler's s.high intermittent fever, irregularly recurring macular and maculo-papular eruption of the face, chest and limbs, leukocytosis, arthralgia, occasionally eosinophilia, and raised erythrocyte sedimentation rate; occurs in children and adolescents, with varying duration.
withdrawal s.the development of a substance-specific s. that follows the cessation of, or reduction in, intake of a psychoactive substance that the person previously used regularly; e.g., clinical syndrome of disorientation, perceptual disturbance, and psychomotor agitation following the cessation of chronic use of excessive quantities of alcohol is termed alcohol withdrawal syndrome. The s. that develops varies according to the psychoactive substance used. Common symptoms include anxiety, restlessness, irritability, insomnia, and impaired attention. See also abstinence s.
Wolff-Parkinson-White s. [MIM*194200] an electrocardiographic pattern sometimes associated with paroxysmal tachycardia; it consists of short P-R interval (usually 0.1 second or less; occasionally normal) together with a prolonged QRS complex with a slurred initial component (delta wave).preexcitation s;
Wright's s.hyperabduction s
Wyburn-Mason s.arteriovenous malformation on the cerebral cortex, retinal arteriovenous angioma and facial nevus, usually occurring in mentally retarded individuals.
XO s.Turner's s
XXY s.Klinefelter's s
XYY s.a chromosomal anomaly with chromosome count 47, with a supernumerary Y chromosome; controversial evidence associates tallness, aggressiveness, and acne with this condition.
yellow nail s.yellow nail
Young s.obstructive azoospermia and chronic sinopulmonary infections.
Zellweger s.cerebrohepatorenal s
Zieve's s.transient jaundice, hemolytic anemia, and hyperlipemia associated with acute alcoholism in patients with cirrhosis or a fatty liver.
Zivert s.Kartagener's s
Zollinger-Ellison s. [MIM*131100] peptic ulceration with gastric hypersecretion and non-beta cell tumor of the pancreatic islets, sometimes associated with familial polyendocrine adenomatosis.

 

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