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Syndactyly type 5

Disease definition

A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.

ORPHA:93406

Classification level: Disorder
  • Synonym(s):
    • Postaxial syndactyly with metacarpal synostosis
    • SD5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q70.0  Q70.2
  • OMIM: 186300
  • UMLS: C1861348
  • MeSH: C538155
  • GARD: 5089
  • MedDRA: -

Detailed information

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