Term Name:	multiple synostoses syndrome 1
Synonyms:
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.
Ontology:	Human Disease [DOID:0081317]   ( DOID:0081317 )