Branchio-Oto-Renal Syndrome
"Branchio-Oto-Renal Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D019280
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| MeSH Number(s) |
C16.131.077.208 C16.131.260.090 C16.320.180.090
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| Concept/Terms |
Branchio-Oto-Renal Syndrome- Branchio-Oto-Renal Syndrome
- Branchio Oto Renal Syndrome
- Syndrome, Branchio-Oto-Renal
- Branchio-Otorenal Dysplasia
- Branchio-Otorenal Syndrome
- Branchiootorenal Syndrome 1
- Melnick-Fraser Syndrome
- Melnick Fraser Syndrome
- Syndrome, Melnick-Fraser
- BOR Syndrome
- Syndrome, BOR
- Branchiootorenal Dysplasia
- Dysplasia, Branchiootorenal
Branchio-Oculo-Facial Syndrome- Branchio-Oculo-Facial Syndrome
- Branchio Oculo Facial Syndrome
- Syndrome, Branchio-Oculo-Facial
- Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
- Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
- Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome
- Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
- Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome
- Lee Root Fenske Syndrome
- BOF Syndrome
- Syndrome, BOF
- Branchiooculofacial Syndrome
- Syndrome, Branchiooculofacial
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Below are MeSH descriptors whose meaning is more general than "Branchio-Oto-Renal Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Branchio-Oto-Renal Syndrome".
This graph shows the total number of publications written about "Branchio-Oto-Renal Syndrome" by people in this website by year, and whether "Branchio-Oto-Renal Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
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Below are the most recent publications written about "Branchio-Oto-Renal Syndrome" by people in Profiles.
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Kadaba P, Arepalli S, Shields JA, Shields CL. Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome. J AAPOS. 2014 Apr; 18(2):201-3.
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Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Ch?nier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet A. 2011 Jan; 155A(1):22-32.
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Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May; 82(5):1171-7.
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Demirci H, Shields CL, Shields JA. New ophthalmic manifestations of branchio-oculo-facial syndrome. Am J Ophthalmol. 2005 Feb; 139(2):362-4.