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Multiple synostoses syndrome

Disease definition

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

ORPHA:3237

  • Synonym(s):
    • Deafness-Hermann type symphalangism syndrome
    • Facio-audio-symphalangism
    • Symphalangism-brachydactyly syndrome
    • WL syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q78.8
  • OMIM: 186500  610017  612961
  • UMLS: C0175700  C0342282
  • MeSH: -
  • GARD: 3836
  • MedDRA: -

Additional information

Further information on this disease

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