Term Name: | palmoplantar keratoderma and congenital alopecia 2 |
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Synonyms: | autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, autosomal recessive palmoplantar keratoderma and congenital alopecia, CASS, cataract-alopecia-sclerodactyly syndrome, palmoplantar keratoderma and congenital alopecia, Wallis type, PPK-CA, Wallis type, PPKCA Wallis type, PPKCA2 |
Definition: | An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. |
Ontology: | Human Disease [DOID:0111245] ( DOID:0111245 ) |