Definition An autosomal dominant (OMIM:127300) form of skeletal dysplasia characterised by moderately short stature largely due to short mesomelic limb segments, which is often associated with Madelung deformity of the wrist
*Madelung deformity is defined by bowing of the radius and dorsal dislocation of the distal ulna.
Molecular pathology Defects of
• SHOX, which controls fundamental aspects of growth and development,
• SHOXY, which is the product of a pseudoautosomal region, short stature homeobox—Y-linked,
cause Leri-Weill dyschondrosteosis.