/Naxos disease

Naxos disease

Rare Disease

MONDO:0011017

Also Known As

KWWH type INAXOS diseaseNXDNaxos diseasekeratoderma with woolly hair type Ikeratoderma with wooly hair type Ikeratosis palmoplantaris with arrythmogenic cardiomyopathypalmoplantar hyperkeratosis with arrythmogenic cardiomyopathypalmoplantar keratoderma with arrythmogenic cardiomyopathyMal De Naxoscardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalitieskeratosis palmoplantaris arrythmogenic cardiomyopathy woolly hairkeratosis palmoplantaris arrythmogenic cardiomyopathy wooly hairkeratosis palmoplantaris with arrhythmogenic cardiomyopathypalmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hairpalmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hairwoolly hair palmoplantar keratoderma cardiac abnormalitieswoolly hair, palmoplantar keratoderma, and Cardiac abnormalitieswooly hair palmoplantar keratoderma cardiac abnormalitieswooly hair, palmoplantar keratoderma, and Cardiac abnormalities

Definition

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