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A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.
ORPHA:65282Classification level: Disorder
- 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: -
Only a few cases have been reported, all involving patients from Ecuador, India or Turkey.
The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The dilated cardiomyopathy may lead to life-threatening congestive heart failure.
The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion.
The syndrome is similar to Naxos disease (see this term).
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- Français (2019, pdf)