Deafness-Hermann type symphalangism syndrome 1 is an autosomal dominant disorder caused by mutations of the NOG 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 | ||||
NOG | ||||
Multiple synostoses syndrome 2 | ||||
Multiple synostoses syndrome 3 | ||||
NOG | ||||
1. |
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