" /> Leri-Weill Dyschondrosteosis - CISMeF





Preferred Label : Leri-Weill Dyschondrosteosis;

NCIt related terms : Leri-Weill Syndrome; Dyschondrosteosis;

NCIt definition : A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement.;

Alternative definition : NICHD: SHOX deficiency caused by heterozygous mutation(s) in the SHOX gene. This condition is characterized by short stature, mesomelia (shortening of radius/ulna and tibia/fibula), and Madelung (dinner fork) deformity of the distal forearm and wrist.;

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03/05/2025


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