En autosomal, dominant störning kännetecknad av olika kombinationer av gropar framför öronen, fistlar eller cystor på halsen, förträngning av tårkanalen, hörselbortfall, defekter i ytter-, mellan- ell er innerörat och missbildningar i njurarna. Astenisk kroppsform, långsmalt ansikte, överbett och närsynthet är andra defekter. Syn. BOR-syndrom, brankio-oto-renal dysplasi, brankiootiskt syndrom, Meln ick-Frasersyndrom.
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)
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Branchio Oto Renal Syndrome — BOR Syndrome — Branchio-Otorenal Dysplasia — Branchio-Otorenal Syndrome — Branchiootorenal Dysplasia — Dysplasia, Branchiootorenal — Melnick-Fraser Syndrome — Melnick Fraser Syndrome — Branchio-Oculo-Facial Syndrome — Branchio Oculo Facial Syndrome — BOF Syndrome — Syndrome, BOF — Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging — Branchiooculofacial Syndrome — Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome — Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome — Lee Root Fenske Syndrome — Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome — Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome — Branchiootorenal Syndrome 2 — Branchiootorenal Syndrome 1