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.Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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