multiple synostoses syndrome 2

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multiple synostoses syndrome 22016-11-27T09:28:51+00:00

multiple synostoses syndrome 2 

GENETICS, ORTHOPAEDICS

A hereditary bone disease (OMIM:610017) characterised by multiple progressive fusion involving proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints, variably accompanied by progressive conductive deafness and facial dysmorphism.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDF5

 http://www.omim.org/entry/610017

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