palmoplantar keratoderma-deafness syndrome https://github.com/monarch-initiative/mondo/issues/10033 https://www.malacards.org/card/keratoderma_palmoplantar_with_deafness palmoplantar keratoderma and sensorineural deafness PPK-deafness syndrome keratoderma palmoplantar deafness OMIM:148350 Orphanet:2202 Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. palmoplantar keratoderma-hearing loss syndrome MONDO:0007852 diffuse palmoplantar keratoderma with deafness (subtype) hereditary palmoplantar keratoderma with deafness (subtype) GARD:0003094 keratoderma palmoplantar, with deafness palmoplantar hyperkeratosis-deafness syndrome UMLS:C1835672 MEDGEN:332030 palmoplantar hyperkeratosis-hearing loss syndrome focal palmoplantar keratoderma with sensorineural deafness (subtype) MESH:C536152 DOID:0111505 diffuse palmoplantar keratoderma GJB2-related disorder obsolete_palmoplantar keratoderma-deafness syndrome