multiple synostoses syndrome 3 (DOID:0081319)
Alliance: disease page
Alt IDs: OMIM:612961
Definition: A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12.