Naxos disease
Naxos disease
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.
Also known as keratoderma with woolly hair type I, keratoderma with wooly hair type I, keratosis palmoplantaris with arrythmogenic cardiomyopathy, KWWH type I, NAXOS disease, NXD, palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy, palmoplantar keratoderma with arrythmogenic cardiomyopathy — per MONDO