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Dyschondrosteosis

Abstract

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Synonyms of Dyschondrosteosis

  • Dwarfism, Deformity with Mesomelic
  • Leri-Weil Dyschondrosteosis
  • Leri-Weill Disease
  • Leri-Weil Syndrome
  • Mesomelic Dwarfism-Madelung Deformity

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large bone of the upper arm (humerus); abnormal bony growths projecting outward from the surface of the shin bones (exostoses of the tibia); unusually short, broad bones in the fingers and toes; and/or abnormalities of the hipbone (i.e., coxa valga). Dyschondrosteosis appears to affect females more severely than males. The disorder is inherited as an autosomal dominant or "pseudoautosomal" trait.

Organizations related to Dyschondrosteosis

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