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)
Synonyms: Branchio-Oto-Renal Syndrome, Branchiootorenal Dysplasia, Branchio-Otorenal Syndrome, Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging, Melnick Fraser Syndrome, Branchio-Oculo-Facial Syndrome, Lee Root Fenske Syndrome, Branchio-Otorenal Dysplasia, Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome, Syndrome, BOF, Dysplasia, Branchiootorenal, Branchio Oculo Facial Syndrome, Branchio Oto Renal Syndrome, Melnick-Fraser Syndrome, BOF Syndrome, Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome, Branchiootorenal Syndrome 1, Branchiootorenal Syndrome 2, Branchiooculofacial Syndrome, Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome, BOR Syndrome, Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome
Instance information
97
D019280
 
                        