Term Name: multiple synostoses syndrome 3
Synonyms:
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.
Ontology: Human Disease [DOID:0081319]   ( DOID:0081319 )

Relationships
is a type of: multiple synostoses syndrome