multiple synostoses syndrome 2 (DOID:0081318)
Alliance: disease page
Alt IDs: OMIM:610017
Definition: A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.