palmoplantar keratoderma-deafness syndrome
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.
MONDO:0017666
diffuse palmoplantar keratoderma
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MONDO:1060236
GJB2-related disorder
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PPK-deafness syndrome
exact
diffuse palmoplantar keratoderma with deafness (subtype)
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focal palmoplantar keratoderma with sensorineural deafness (subtype)
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hereditary palmoplantar keratoderma with deafness (subtype)
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keratoderma palmoplantar deafness
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keratoderma palmoplantar, with deafness
narrow
palmoplantar hyperkeratosis-deafness syndrome
exact
palmoplantar hyperkeratosis-hearing loss syndrome
exact
palmoplantar keratoderma and sensorineural deafness
exact
palmoplantar keratoderma-hearing loss syndrome
exact