Preferred Label : Cataract - alopecia - sclerodactyly;
ICD-11 definition : Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome is an
ectodermal dysplasia characterized by bilateral congenital cataracts, total congenital
alopecia and skin changes including sclerodactyly, hyperkeratosis, contractures and
pseudoainhum formation.;
Origin ID : 2030637145;
Currated CISMeF NLP mapping
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome is an
ectodermal dysplasia characterized by bilateral congenital cataracts, total congenital
alopecia and skin changes including sclerodactyly, hyperkeratosis, contractures and
pseudoainhum formation.