Leri-Weill dyschondrosteosis

An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosom

An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.

Signs and symptoms

• Multiple exostoses
• Tibial bowing
• Fibular hypoplasia
• Abnormal carpal morphology
• Abnormal humerus morphology
• Disproportionate short-limb short stature
• High palate
• Limited elbow movement
• Dorsal subluxation of ulna
• Abnormal femoral neck morphology