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

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.

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.

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

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

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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