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Branchio-Oto-Renal Syndrome MeSH Descriptor Data 2024

MeSH Heading
Branchio-Oto-Renal Syndrome
Tree Number(s)
Unique ID
RDF Unique Identifier
Scope Note
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)
Entry Term(s)
BOF Syndrome
BOR Syndrome
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
Branchio-Oculo-Facial Syndrome
Branchio-Otorenal Dysplasia
Branchio-Otorenal Syndrome
Branchiooculofacial Syndrome
Branchiootorenal Dysplasia
Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 2
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
Lee Root Fenske Syndrome
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
Melnick-Fraser Syndrome
Previous Indexing
Abnormalities, Multiple (1966-1996)
Chromosome Abnormalities (1966-1996)
Public MeSH Note
History Note
Date Established
Date of Entry
Revision Date
Branchio-Oto-Renal Syndrome Preferred
Branchiootorenal Syndrome 2 Related
Branchiootorenal Syndrome 1 Narrower
Branchio-Oculo-Facial Syndrome Related
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