multiple synostoses syndrome type 3

multiple synostoses syndrome type 3

An autosomal dominant condition (OMIM:612961) characterised by progressive joint fusions of the fingers, wrists, ankles and cervical spine, characteristic facies and progressive conductive deafness.

Molecular pathology
Defects in FGF9  on chromosome 13q11-q12 cause multiple synostoses syndrome type 3.
Mentioned in ?
Full browser ?