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Naxos disease

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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.

Disease Overview

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

Synonyms

  • KWWH type I
  • Mal De Naxos
  • NAXOS disease
  • NXD
  • Naxos disease
  • cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities
  • keratoderma with woolly hair type I
  • keratoderma with wooly hair type I
  • keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair
  • keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair
  • keratosis palmoplantaris with arrhythmogenic cardiomyopathy
  • keratosis palmoplantaris with arrythmogenic cardiomyopathy
  • palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
  • palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair
  • palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair
  • palmoplantar keratoderma with arrythmogenic cardiomyopathy
  • woolly hair palmoplantar keratoderma cardiac abnormalities
  • woolly hair, palmoplantar keratoderma, and Cardiac abnormalities
  • wooly hair palmoplantar keratoderma cardiac abnormalities
  • wooly hair, palmoplantar keratoderma, and Cardiac abnormalities
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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