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Dwarfism

Translation
Dwarfism
Abnormally short stature, which may be due to a variety of causes. Some forms are hereditary. See also {{}}achondroplasia; dwarfism, pituitary.
* * *
A condition or a group of conditions in which the standing height of the person is below the 3rd percentile.
- acromelic d. SYN: acromesomelic d..
- acromesomelic d. a form of short-limb d. characterized by pug-nose and shortening particularly striking in the distal segment of the limbs, i.e., the forearms and lower legs, fingers and toes; autosomal recessive inheritance. SYN: acromelic d., acromesomelia.
- aortic d. underdevelopment of physical stature associated with severe aortic stenosis.
- asexual d. d. in which adult sexual development is deficient.
- camptomelic d. d. with shortening of the lower limbs due to anterior bending of the femur and tibia.
- chondrodystrophic d. chondrodystrophy.
- diastrophic d. [MIM*222600] SYN: diastrophic dysplasia.
- disproportionate d. d. characterized by more significant shortening of the limbs or the trunk; when the limbs are primarily involved, the shortening may predominate in the proximal segments (rhizomelia), middle segments (mesomelia), or distal segments (acromelia); usually results from hereditary intrinsic skeletal dysplasias.
- Fröhlich d. d. with Fröhlich syndrome.
- Hunter-Thompson d. [MIM*201250] a severe form of acromesomelic d., characterized by shortening of the distal segments of the limbs; lower extremities are more severely affected than the upper limbs; often associated with dislocations of elbows, knees, and hips. Autosomal recessive inheritance, caused by mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene on chromosome 20q.
- hypothyroid d. SYN: infantile hypothyroidism.
- infantile d. SYN: infantilism (1).
- Laron type d. d. associated with an absent or very low levels of somatomedin C (insulinlike growth factor I) or abnormalities in receptor activity.
- lethal d. d. leading to intrauterine or neonatal death.
- Lorain-Lévi d. SYN: pituitary d..
- mesomelic d. d. with shortness of the forearms and lower legs.
- metatropic d. [MIM*250600] a skeletal dysplasia characterized by disproportionate d. in which the trunk is long relative to the limbs at birth but undergoes reversal of this proportion with subsequent development with severe and progressive kyphoscoliosis; there is metaphyseal flare of long bones, the pelvis is halberd-shaped, and the coccyx is long, resulting in a sacral appendage; autosomal recessive inheritance.
- 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. SYN: 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. SYN: Lorain-Lévi d., Lorain-Lévi infantilism, Lorain-Lévi syndrome, pituitary infantilism.
- primordial d. SYN: physiologic d..
- proportionate d. d. characterized by a symmetric shortening of the limbs and trunk; generally results from chemical, endocrine, nutritional, or nonosseous abnormalities.
- rhizomelic d. one of the syndromes of chondrodysplasia punctata (q.v.), autosomal recessive, with variable skin keratinization disorders and variable facial, cardiac, optic, and central nervous system abnormalities; epiphyseal stippling is also present. There are multiple enzymatic defects, including peroxisomal ones, and affected infants fail to thrive and usually die in infancy.
- Robinow d. SYN: Robinow syndrome.
- Seckel d. SYN: Seckel syndrome.
- senile d. d. characterized by craniofacial anomalies with progeroid appearance.
- Silver-Russell d. SYN: 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]. SYN: dominantly inherited Lévi 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. SYN: physiologic d..

Medical dictionary. 2011.

  
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