Multiple synostoses syndrome 1

Common Name(s)

Multiple synostoses syndrome 1, Symphalangism-brachydactyly syndrome, Symphalangism brachydactyly

Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by {16:Takahashi et al., 2001}). Genetic Heterogeneity of Multiple Synostoses Syndrome Other forms of multiple synostoses syndrome include SYNS2 ({610017}), caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11.2, and SYNS3 ({612961}), caused by mutation in the FGF9 gene ({600921}) on chromosome 13q11-q12.
 

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Condition Specific Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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