Palmoplantar keratoderma with deafness information
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Medical condition
Palmoplantar keratoderma with deafness
Other names
Keratoderma palmoplantar, with deafness, Palmoplantar keratoderma and sensorineural deafness, Hereditary palmoplantar keratoderma with deafness (subtype), Focal palmoplantar keratoderma with sensorineural deafness (subtype), Diffuse palmoplantar keratoderma with deafness (subtype).[1]
Specialty
Medical genetics, Dermatology
Symptoms
Mainly palmoplantar keratoderma and hearing loss
Complications
Hearing impairment
Usual onset
Early
Duration
Lifelong (but can be treated, especially the deafness part)
Types
Hereditary, focal, and Diffuse
Causes
Genetic mutation
Prevention
None
Prognosis
Good to Medium
Frequency
rare
Deaths
-
Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance.
^"Keratoderma palmoplantar deafness".
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G, et al. (2000). "Connexin mutations associated withpalmoplantarkeratoderma and profound deafness in a single family". Eur. J. Hum. Genet. 8 (2): 141–4...
www.orpha.net. Retrieved 2019-04-16. "Corneal dystrophy and perceptive deafness - About the Disease - Genetic and Rare Diseases Information Center". rarediseases...