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Rare Disease Database

arrhythmogenic cardiomyopathy with wooly hair and keratoderma

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.

Synonyms

  • Carvajal syndrome
  • DCWHK
  • KWWH type II
  • arrhythmogenic cardiomyopathy with wooly hair and keratoderma
  • cardiomyopathy dilated with woolly hair and keratoderma
  • cardiomyopathy dilated with wooly hair and keratoderma
  • cardiomyopathy, dilated, with woolly hair and keratoderma
  • cardiomyopathy, dilated, with wooly hair and keratoderma
  • dilated cardiomyopathy with woolly hair and keratoderma
  • dilated cardiomyopathy with wooly hair and keratoderma
  • epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
  • epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy
  • keratoderma with woolly hair type II
  • keratoderma with wooly hair type II
  • palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
  • palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair
  • woolly hair - palmoplantar keratoderma - dilated cardiomyopathy
  • woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome
  • woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
  • woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
  • wooly hair - palmoplantar keratoderma - dilated cardiomyopathy
  • wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome
  • wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
  • wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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