Term Name: Leri-Weill dyschondrosteosis
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 )

Relationships
is a type of: osteochondrodysplasia