Human genes for Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis [DOID:0060847]
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.
Synonyms: Leri-Weill dyschondrosteosis, DOID:0060847, LeriWeill dyschondrosteosis, Leri-Weill dyschondrosteosises