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Polydactyly of a triphalangeal thumb

Disease definition

Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).

ORPHA:93336

  • Synonym(s):
    • PPD2
    • Preaxial polydactyly type 2
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q69.1
  • OMIM: 174500
  • UMLS: C1868114
  • MeSH: -
  • GARD: 5289
  • MedDRA: -

Additional information

Further information on this disease

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