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Inherited syndrome with knuckle pads, leukonychia, and sensorineural deafness.

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Incidence unknown. In 1967, Bart and Pumphrey described the syndrome in a large kindred and three families. Autosomal dominant inheritance. The mutation seems to affect the GJB2 gene encoding the gap junction protein connexin-26.

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Hearing loss is caused by a cochlear defect. Features include knuckle pads and leukonychia (possible on fingers and toes). Keratosis palmoplantaris is common in older patients.

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Considering hearing loss, adapted preoperative explanations should be given to the patients to prevent anxiety. Leukonychia can alter accuracy of pulse oximetry.

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Vohwinkel Syndrome: Congenital deafness with keratopachyderma and constrictions of fingers and toes.

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Keratitis Ichtyosis Deafness (KID) Syndrome: A form of ectodermal dysplasia characterized by inflammation of the corneae (keratitis), skin scales, and deafness.

Bart RS, Pumphrey RE: Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. N Engl J Med 276:202, 1967.  [PubMed: 6015974]
Ramer JC, Vasily DB, Ladda RL: Familial leukonychia, knuckle pads, hearing loss and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. J Med Genet 31:68, 1994.  [PubMed: 8151643]
Richard G, Brown N, Ishida-Yamamoto A, et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol 123:856, 2004.  [PubMed: 15482471]

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