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
|
MeSH Number(s) |
C16.131.077.208 C16.131.260.090 C16.320.180.090
|
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
|
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.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
---|
1999 | 1 | 0 | 1 |
2008 | 1 | 0 | 1 |
2009 | 1 | 0 | 1 |
2010 | 1 | 0 | 1 |
2013 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Branchio-Oto-Renal Syndrome" by people in Profiles.
-
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome. AJNR Am J Neuroradiol. 2018 12; 39(12):2345-2349.
-
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. Am J Med Genet A. 2013 Feb; 161A(2):371-6.
-
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A. 2010 Nov; 152A(11):2854-60.
-
Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome. J Craniofac Surg. 2009 Mar; 20 Suppl 1:608-11.
-
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. Am J Med Genet A. 2008 Oct 01; 146A(19):2480-9.
-
Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. Hum Hered. 1999 Mar; 49(2):75-80.