HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Branchio-Oto-Renal Syndrome (Branchio Oculo Facial 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; BOR Syndrome; BOF Syndrome; Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging; Branchio-Otorenal Syndrome; Branchiooculofacial Syndrome; Branchiootorenal Dysplasia; Branchiootorenal Syndrome 1; Branchiootorenal Syndrome 2; Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome; Lee Root Fenske Syndrome; Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome; Melnick-Fraser Syndrome; Branchio Oto Renal Syndrome; Dysplasia, Branchiootorenal; Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome; Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome; Melnick Fraser Syndrome; Syndrome, BOF; Branchio-Oculo-Facial Syndrome; Branchio-Otorenal Dysplasia
Networked: 46 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Deafness (Deaf Mutism)
2. CHARGE Syndrome
3. Renal Insufficiency (Renal Failure)
4. Hearing Loss (Hearing Impairment)
5. Oligohydramnios

Experts

1. Iijima, Kazumoto: 2 articles (05/2018 - 04/2006)
2. Ito, Shuichi: 2 articles (05/2018 - 11/2014)
3. Nozu, Kandai: 2 articles (05/2018 - 04/2006)
4. Tekin, Mustafa: 2 articles (07/2017 - 03/2009)
5. Englert, Christoph: 2 articles (01/2014 - 09/2008)
6. Landgraf, Kathrin: 2 articles (01/2014 - 09/2008)
7. Musharraf, Amna: 2 articles (01/2014 - 09/2008)
8. Just, Walter: 2 articles (11/2012 - 09/2007)
9. Xu, Pin-Xian: 2 articles (11/2008 - 04/2007)
10. Zou, Dan: 2 articles (11/2008 - 04/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Branchio-Oto-Renal Syndrome:
1. Transcription Factors (Transcription Factor)IBA
2. DNA (Deoxyribonucleic Acid)IBA
3. Proteins (Proteins, Gene)FDA Link
4. Phosphoric Monoester Hydrolases (Phosphatases)IBA
5. Nonsense Codon (Nonsense Mutation)IBA
6. 1,2-cyclohexanediamine (dach)IBA
7. beta CateninIBA
8. SilkFDA Link
9. Electron Transport Complex I (NADH-CoQ Reductase)IBA
10. GTP-Binding Proteins (G-Protein)IBA

Therapies and Procedures

1. Cochlear Implantation
2. Ligation
3. Parathyroidectomy
4. Kidney Transplantation
5. Tracheostomy