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Multiple synostoses syndrome 2

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Description

Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

41

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Genes

External Links

  • OMIM

    610017

  • Orphanet
  • HPO
  • Medgen

    C1832708

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