Term Name:	multiple synostoses syndrome 2
Synonyms:
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.
Ontology:	Human Disease [DOID:0081318]   ( DOID:0081318 )