Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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. Disease data Klasyfikacja Disease Synonimy PPK-deafness syndrome Zespół hiperkeratoza dłoni i stóp - głuchota Zespół hiperkeratoza dłoni i stóp - utrata słuchu Zespół PPK-głuchota Zespół rogowiec dłoni i stóp - utrata słuchu Palmoplantar hyperkeratosis-deafness syndrome Palmoplantar hyperkeratosis-hearing loss syndrome Palmoplantar keratoderma-hearing loss syndrome Kod ORPHA 2202 Kod OMIM 148350 Kod ICD10 Q82.8 Kod ICD11 EC20.30 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl