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Polydactyly of a biphalangeal thumb

Disease definition

Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.

ORPHA:93339

Classification level: Disorder
  • Synonym(s):
    • PPD1
    • Preaxial polydactyly type 1
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q69.1
  • OMIM: 174400
  • UMLS: C1395852
  • MeSH: -
  • GARD: 4417
  • MedDRA: -
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