Branchio-Oto-Renal Syndrome

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 and Eponymic Diseases, 2d ed)

Year introduced: 1997

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Tree Number(s): C16.131.077.208, C16.131.260.090, C16.320.180.090

MeSH Unique ID: D019280

Entry Terms:

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