Multiple synostoses syndrome 2
Deafness-Hermann type symphalangism syndrome 2 is an autosomal dominant disorder caused by mutations of the GDF5 gene. It is characterized by proximal symphalangism in fingers and toes as well as fusion of carpal and tarsal, humeroradial, and cervical spine joints. Often an congenital conductive hearing loss is also observed.
|Multiple synostoses syndrome|
|Multiple synostoses syndrome 1|
|Multiple synostoses syndrome 2|
|Multiple synostoses syndrome 3|
Dawson K et al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.[^]
OMIM.ORG articleOmim 610017 [^]