Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features

Clinical Features

Hill et al. (2004) reported 2 brothers with trichiasis (misdirected lashes), entropion with corneal abrasions, strabismus, progressive thinning of the scalp hair, sensorineural hearing impairment, mild learning difficulties, and inguinal hernias. The brothers had distinctive facial features with deep-set eyes, a high nasal bridge, and a short philtrum. Although both brothers were carriers of a maternally inherited apparently balanced translocation of chromosomes 11 and 18 (46,XY, t(11;18)(p13;q21)mat), the translocation was thought to be coincidental because their phenotypically normal younger brother also carried the translocation. Hill et al. (2004) suggested that the features in these brothers represented a novel syndrome.