Rapp-Hodgkin syndrome.
A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. The clinical presentation of ectodermal dysplasia with cleft palate was consistent with Rapp-Hodgkin syndrome, which is one of several allelic diseases associated with mutations in the TP63 gene. The clinical manifestations of Rapp-Hodgkin as well as other ectodermal dysplasias with clefting are discussed.
Kim
Gene
G
Ronald O. Perelman Department of Dermatology, New York University, USA.
Shin
Helen
H
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D019465:Craniofacial Abnormalities; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009264:Nails, Malformed; D013577:Syndrome