Catalog

Woolly hair – palmoplantar keratoderma – dilated cardiomyopathy

No MMS code

Link to WHO Definition

Woolly hair – palmoplantar keratoderma – dilated cardiomyopathy – http://id.who.int/icd/entity/794833082

This syndrome, widely known as Carvajal syndrome, is characterised by woolly hair, striate palmoplantar keratoderma and left-sided arrhythmogenic ventricular cardiomyopathy, associated with severe ventricular dysfunction, arrhythmias of left ventricular origin and sudden cardiac death. It is inherited as autosomal recessive disorder due to a mutation in the desmoplakin gene.