multiple synostoses syndrome 1 (DOID:0081317)
Alliance: disease page
Alt IDs: OMIM:186500
Definition: A multiple synostoses syndrome 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 NOG gene on chromosome 17q22.