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DeCS
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Descriptor English:
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Branchio-Oto-Renal Syndrome
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Descriptor Spanish:
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Síndrome Branquio Oto Renal
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Descriptor Portuguese:
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Síndrome Brânquio-Otorrenal
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Synonyms English:
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BOF Syndrome
BOR Syndrome
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
Branchio Oculo Facial Syndrome
Branchio Oto Renal Syndrome
Branchio-Oculo-Facial Syndrome
Branchio-Otorenal Dysplasia
Branchio-Otorenal Syndrome
Branchiooculofacial Syndrome
Branchiootorenal Dysplasia
Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 2
Dysplasia, Branchiootorenal
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
Melnick Fraser Syndrome
Melnick-Fraser Syndrome
Syndrome, BOF
Syndrome, BOR
Syndrome, Branchio-Oculo-Facial
Syndrome, Branchio-Oto-Renal
Syndrome, Branchiooculofacial
Syndrome, Melnick-Fraser
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Tree Number:
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C16.131.077.208
C16.131.260.090
C16.320.180.090
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Definition English:
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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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History Note English:
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97
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Allowable Qualifiers English:
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Record Number:
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32954
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Unique Identifier:
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D019280
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Occurrence in VHL:
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Similar:
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DeCS
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