Naxos disease

Also known as: Cardiocutaneous syndrome with palmoplantar keratoderma

Recessive ARVC with woolly hair and palmoplantar keratoderma.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, hair and skin from infancy
Gene(s) involved: JUP

Etiology & mechanism

Plakoglobin deficiency impairs desmosomes.

Gene(s) involved (1)

JUP

Symptoms & signs (6)

arrhythmogenic cardiomyopathyheart failurepalmoplantar keratodermasyncopeventricular tachycardiawoolly hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.