Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + At a Glance Download Section PDF Listen ++ Inherited syndrome with knuckle pads, leukonychia, and sensorineural deafness. + Incidence and Genetic Inheritance Download Section PDF Listen ++ 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. + Clinical Aspects Download Section PDF Listen ++ 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. + Anesthetic Considerations Download Section PDF Listen ++ Considering hearing loss, adapted preoperative explanations should be given to the patients to prevent anxiety. Leukonychia can alter accuracy of pulse oximetry. + Other Conditions to Be Considered Download Section PDF Listen ++ 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. + References Download Section PDF Listen ++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]