Disease or Syndrome
Branchio-Oto-Renal syndrome
Subclass of:
Congenital chromosomal disease;
Multiple congenital anomalies
Definitions related to branchio-oto-renal syndrome:
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(bor syndrome) Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).OrphaNetINSERM, 2021
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(melnick-fraser syndrome) An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities.NCI ThesaurusU.S. National Cancer Institute, 2021
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A hereditary disorder caused by mutations in the EYA1 gene, which is characterized by hearing loss, structural defects of the ear, branchial fistulas or cysts, and early, progressive chronic renal failure.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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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)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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