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multiple synostoses syndrome

Genetics: - autosomal dominant - associated with defects in NOG gene (type 1) - associated with defects in GDF5 (type 2) - associated with defects in FGF9 (type 3) [2] Clinical manifestations: - progressive joint fusions of the fingers, wrists, ankles & cervical spine, characteristic facies & progressive conductive deafness

Related

synostosis

Specific

multiple synostoses syndrome 1 (SYNS1); synostoses, multiple, with brachydactyly; symphalangism-brachydactyly syndrome

General

genetic syndrome (multisystem disorder) developmental disorder

Database Correlations

OMIM correlations

References

  1. OMIM :accession 610017
  2. OMIM :accession 612961