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Naxos disease

Disease definition

A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

ORPHA:34217

Classification level: Disorder
  • Synonym(s):
    • KWWH type I
    • Keratoderma with woolly hair type I
    • Keratosis palmoplantaris with arrythmogenic cardiomyopathy
    • Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
    • Palmoplantar keratoderma with arrythmogenic cardiomyopathy
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 601214
  • UMLS: C1832600
  • MeSH: C538346
  • GARD: 9795
  • MedDRA: -

Detailed information

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