Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Systematic

Multiple synostoses syndrome
Multiple synostoses syndrome 1
Multiple synostoses syndrome 2
GDF5
Multiple synostoses syndrome 3
NOG

References:

1.

Dawson K et al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.

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2.

OMIM.ORG article

Omim 610017 [^]
Update: April 29, 2019