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Dyschondrosteosis

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Location: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dyschondrosteosis

Description: Dwarfism, Madelung Deformity. NORD Database
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.

Type: Reference Material
Author/Contact: Not Available
Institution: NORD
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 1410
Added: Sat Jul 16 2005
Last Modified: Thu Aug 06 2009