palmoplantar keratoderma and congenital alopecia 2

Term ID

DOID:0111245

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. https://www.ncbi.nlm.nih.gov/pubmed/20635335

References

• MESH:C535336
• OMIM:212360
• ORDO:1366
• UMLS_CUI:C1859316

Ontology

Human Disease   ( DOID:0111245 )