DISEASES

Disease-gene associations mined from literature

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