Term Name: | Leri-Weill dyschondrosteosis |
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Synonyms: | |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060847] ( DOID:0060847 ) |