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Keratosis palmaris et plantaris-clinodactyly syndrome

Disease definition

Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.

ORPHA:86919

Classification level: Disorder
  • Synonym(s):
    • Palmoplantar keratoderma-clinodactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q82.8
  • OMIM: 148520
  • UMLS: C1835663
  • MeSH: -
  • GARD: -
  • MedDRA: -

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