dwarfism (dworf´izm)

The condition of being abnormally undersized.dwarfishness;
achondroplastic d. See achondroplasia.
acromelic d. acromesomelia
aortic d. underdevelopment of physical stature associated with severe aortic stenosis.
asexual d. d. in which adult sexual development is deficient.
ateliotic d. panhypopituitarism
camptomelic d. d. with shortening of the lower limbs due to anterior bending of the femur and tibia.
chondrodystrophic d. See chondrodystrophy.
diastrophic d. [MIM*222600] an autosomal recessive form of d. characterized in its complete form by scoliosis, hitchhiker thumb, absent interphalangeal joints, cleft palate, chondritis followed by calcification of the ears, shortening of the Achilles tendon, clubbed foot, and characteristic radiologic findings; a milder variant may be allelic.
disproportionate d. d. in which the limbs and trunk are not of proportional length for age or stage of development.
Fröhlich's d. d. with Fröhlich's syndrome.
hypothyroid d. infantile hypothyroidism
infantile d. infantilism (1)
Laron type d. d. associated with an absent or very low levels of somatomedin C (insulin-like growth factor I) or abnormalities in receptor activity.
lethal d. d. leading to intrauterine or neonatal death.
Lorain-Lévi d. pituitary d
mesomelic d. d. with shortness of the forearms and lower legs.
metatropic d. [MIM*250600] congenital disproportionate dwarfism in which the trunk is long relative to the limbs at birth but undergoes reversal of this proportion with subsequent development.
micromelic d. d. with abnormally short or small limbs.
panhypopituitary d. type I is an autosomal recessive disorder with deficient human growth hormone, ACTH, FSH, etc., having delayed sexual development, hypothyroidism, and adrenal insufficiency; type II is similar but is an X-linked disorder.
phocomelic d. d. in which the diaphyses of the long bones are abnormally short or the intermediate parts of the limbs are absent.
physiologic d. d. characterized by normal development that is at a strikingly lesser rate than that for members of the same family, race, or other races.primordial d., true d;
pituitary d. a rare form of d. caused by the absence of a functional anterior pituitary gland; may be present at birth or develop during early childhood.Lorain-Lévi d., Lorain-Lévi infantilism, Lorain-Lévi syndrome, pituitary infantilism;
polydystrophic d. Maroteaux-Lamy syndrome
primordial d. physiologic d
Robinow d. d. associated with fetal face, acral dysostosis, and genital anomalies; there is also an autosomal recessive form [MIM*268310].
Seckel d. Seckel syndrome
senile d. d. characterized by craniofacial anomalies with progeroid appearance.
sexual d. d. with normal sexual development.
Silver-Russell d. Silver-Russell syndrome
snub-nose d. [MIM*127100] d. characterized by low birth weight, snub nose, and stocky build; autosomal dominant inheritance. There is a similar autosomal recessive phenotype [MIM*223600].dominantly inherited Lévi's disease;
thanatophoric d. a lethal d. characterized by micromelia, bowed long bones, enlarged head, flattened vertebral bodies, and muscular hypotonia; lack of pulmonary ventilation causes respiratory difficulties with cyanosis leading to death within the first few hours or days after birth.
true d. physiologic d


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