Branchio-Oto-Renal Syndrome

Branchio-Otorenal Syndrome; BOR Syndromes; Branchio Oculo Facial Syndrome; Branchio Oto Renal Syndrome; Branchio Otorenal Dysplasia; Branchio Otorenal Syndrome; Branchio-Oculo-Facial Syndromes; Branchio-Oto-Renal Syndromes; Branchio-Otorenal Dysplasias
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)