Orphanet: Carvajal syndrome

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Carvajal syndrome

Disease definition

A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.


Classification level: Disorder
  • Synonym(s):
    • KWWH type II
    • Keratoderma with woolly hair type II
    • Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
    • Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
    • Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
    • Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: -
  • OMIM: 605676  615821
  • UMLS: C1854063
  • MeSH: -
  • GARD: 5595
  • MedDRA: -

Detailed information


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