HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Branchio-Oto-Renal Syndrome (Branchio Oculo Facial Syndrome)

Subscribe to New Research on Branchio-Oto-Renal Syndrome

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)

Also Known As:

Branchio Oculo Facial Syndrome; Syndrome, BOR; BOR Syndrome; Branchio-Otorenal Syndrome; BOR Syndromes; Branchio Oto Renal Syndrome; Branchio Otorenal Dysplasia; Branchio Otorenal Syndrome; Branchio-Oculo-Facial Syndromes; Branchio-Oto-Renal Syndromes; Branchio-Otorenal Dysplasias; Branchio-Otorenal Syndromes; Dysplasia, Branchio-Otorenal; Dysplasias, Branchio-Otorenal; Syndrome, Branchio-Oculo-Facial; Syndrome, Branchio-Oto-Renal; Syndrome, Branchio-Otorenal; Syndromes, BOR; Syndromes, Branchio-Oculo-Facial; Syndromes, Branchio-Oto-Renal; Syndromes, Branchio-Otorenal; Branchio-Oculo-Facial Syndrome; Branchio-Otorenal Dysplasia

Networked: 54 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Branchioma (Branchial Cleft Cysts)
2.	Hearing Loss (Hearing Impairment)
3.	Fistula
4.	CHARGE Syndrome
5.	Branchio-Oto-Renal Syndrome (Branchio Oculo Facial Syndrome)

Experts

1.	Xu, Pin-Xian: 3 articles (03/2010 - 04/2007)
2.	Just, Walter: 2 articles (11/2012 - 09/2007)
3.	Zou, Dan: 2 articles (11/2008 - 04/2007)
4.	Kamei, Koichi: 1 article (11/2014)
5.	Ogura, Masao: 1 article (11/2014)
6.	Miyazaki, Osamu: 1 article (11/2014)
7.	Ito, Shuichi: 1 article (11/2014)
8.	Nosaka, Shunsuke: 1 article (11/2014)
9.	Basheer, Faisal: 1 article (05/2014)
10.	Jalil, Jawad: 1 article (05/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Branchio-Oto-Renal Syndrome:

1.	Branchiootorenal syndrome 1IBA 04/01/2008 - "BOR syndrome or Melnick-Fraser syndrome." 09/23/1998 - "125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal dominant (AD) manner and has variable clinical expression. " 11/01/2008 - "Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. " 09/01/2007 - "Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. " 03/01/1998 - "Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome)."
2.	Hereditary renal agenesisIBA 01/01/2014 - "Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? " 03/01/2010 - "Six1 is a crucial regulator of renal development: mutations in human SIX1 cause branchio-oto-renal (BOR) syndrome and Six1(-/-) mice exhibit renal agenesis, although the ureter is present. " 03/01/2008 - "The proband also displayed pre-auricular pits, branchial fistulae and renal agenesis that define BOR syndrome. " 02/01/1988 - "This family highlights the variable expressivity seen in the autosomal dominant BOR syndrome, the importance of genetic counselling for families with BOR syndrome, and the aetiologic heterogeneity of renal agenesis." 02/01/1988 - "This is the first report of prenatal diagnosis of a fetus with brachio-oto-renal dysplasia (BOR) syndrome with right-sided renal agenesis and severe left hypoplasia. "
3.	DNA (Deoxyribonucleic Acid)IBA 08/15/2013 - "Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain." 04/01/2013 - "Here we describe the 2.0-Å structure of SIX1 bound to EYA2, which suggests a new DNA-binding mechanism for SIX1 and provides a rationale for the effect of BOR syndrome mutations. " 04/01/2006 - "We isolated genomic DNA from 15 patients with branchio-oto-renal (BOR) syndrome or BOR-related conditions. " 10/01/1992 - "DNA from four generations of a family with autosomal dominant BOR syndrome have been typed with a series of genetic markers on the long arm of chromosome 8. Using two point linkage analysis, a significant lod score of Z = 4.0 at theta = 0.05 was obtained with the D8S165 microsatellite marker. "
4.	Transcription Factors (Transcription Factor)IBA 11/01/2012 - "Branchio-oculo-facial syndrome (BOFS) is a rare entity described during the last century which has been recently linked to mutations of the gene encoding for the transcription factor named 'TFAPA2'. " 12/01/2009 - "Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalies. " 04/01/2007 - "Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome."
5.	Townes-Brocks syndromeIBA 08/01/2001 - "Specific disorders seen were CHARGE association, Townes-Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, and diabetic embryopathy. " 10/01/2006 - "Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome). " 08/01/2001 - "These include CHARGE association, Townes-Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, Miller syndrome, and diabetic embryopathy. " 10/01/1989 - "A number of conditions are discussed that are commonly differentiated from oculoauriculovertebral spectrum but have overlapping relationships, in some instances, with frontonasal dysplasia, branchio-oto-renal (BOR) syndrome, Townes-Brocks syndrome, Wildervanck syndrome, DiGeorge sequence, and several associations (VATER, CHARGE, and MURCS)."
6.	Nonsense Codon (Nonsense Mutation)IBA 10/01/2004 - "EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome." 01/01/1999 - "EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family."
7.	Goldenhar diseaseIBA 10/01/2008 - "We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either branchiootorenal syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). " 10/01/1989 - "A number of conditions are discussed that are commonly differentiated from oculoauriculovertebral spectrum but have overlapping relationships, in some instances, with frontonasal dysplasia, branchio-oto-renal (BOR) syndrome, Townes-Brocks syndrome, Wildervanck syndrome, DiGeorge sequence, and several associations (VATER, CHARGE, and MURCS)."
8.	Pendred syndromeIBA 05/01/1998 - "Aside from the branchio-otorenal syndrome, Pendred syndrome is the only other known genetic disorder with a widened vestibular aqueduct. " 03/01/2012 - "Syndromes discussed include BOR syndrome, CHARGE syndrome, Pendred syndrome, Waardenburg syndrome, and X-linked hearing loss with stapes gusher. "
9.	CatatrichyIBA 01/01/2001 - "A 1-year-old male with branchio-oculo-facial syndrome together with preaxial polydatyly and a white forelock at birth is described. " 07/01/1998 - "Branchio-oculo-facial syndrome associated with a white forelock." 01/01/2001 - "Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome."
10.	1,2-cyclohexanediamine (dach)IBA 09/15/2007 - "Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS)." 01/01/2002 - "Our results suggest that defective protein-protein interactions of the mutations in the EYA domain underlie BOR syndrome and that SIX, DACH, and/or G proteins are possibly involved in the pathogenic processes." 01/01/2002 - "Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins."

Therapies and Procedures

1.	Cochlear Implantation 09/01/2007 - "Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge." 08/01/2010 - "Samples of profuse fluid leakage collected from cochleostomy during cochlear implantation surgery of one patient with branchio-oto-renal (BOR) syndrome were also tested by the CTP detection test. "
2.	Ligation 01/01/2014 - "Owing to this fact, methods for the identification of abnormal copy numbers such as multiplex ligation-dependent probe amplification (MLPA) have been introduced as routine laboratory techniques for molecular diagnostics of BOR syndrome. " 11/01/2007 - "We examined six Danish families with BOR syndrome by assessing linkage to BOR loci, by performing EYA1 multiplex ligation-dependent probe amplification (MLPA) analysis for deletions and duplications and by sequencing of EYA1, SIX1 and SIX5. "
3.	Transplants (Transplant) 10/01/1994 - "We describe a 15-year-old girl with chronic renal failure secondary to renal dysplasia and branchio-oto-renal syndrome, who received a cadaveric renal transplant at 8 years of age from a 25-year-old male donor. "
4.	Kidney Transplantation 11/01/2014 - "A 20-yr-old woman with bilateral hypoplastic kidneys due to branchio-oto-renal syndrome had received living-donor renal transplantation from her father at the age of 11. "
5.	Tracheostomy 01/01/2012 - "The authors report a 19-month-old girl with BOR syndrome with features of severe airway obstruction needing tracheostomy."