Branchiootorenal Syndrome 1

Common Name(s)

Branchiootorenal Syndrome 1, Melnick-Fraser syndrome

Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed ({10:Fraser et al., 1978}). Genetic Heterogeneity of Branchiootorenal Syndrome Approximately 40% of patients with BOR have mutations in the EYA1 gene. Mutations in the SIX5 gene ({600963}) on chromosome 19q13 are found in about 5% of patients (BOR2; {610896}). See also branchiootic (BO) syndrome-1 (BOS1; {602588}) and the otofaciocervical syndrome (OFC; {166780}), allelic disorders showing overlapping phenotypes but without renal anomalies. See also {600257} for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by {35:Vincent et al. (1994)}. Although {25:Melnick et al. (1978)} maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, {6:Cremers and Fikkers-van Noord (1980)} concluded that the 2 syndromes are in fact a single entity.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Branchiootorenal Syndrome 1" for support, advocacy or research.

Logo
The Cain Foundation for Branchio-oto-renal Syndrome (BOR)

The CAIN FOUNDATION, a voluntary based Charity. Our mission is to represent the interests of many people affected by Branchio-oto-renal Syndrome and to improve their quality of life by providing support and information related to this Syndrome. We seek to educate both Medical Practitioners and the public by promoting Branchio-oto-renal (BOR) Syndrome awareness. Vision to Educate. Mission to Care.

Last Updated: 12 Oct 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Branchiootorenal Syndrome 1" for support, advocacy or research.

Logo
The Cain Foundation for Branchio-oto-renal Syndrome (BOR)

The CAIN FOUNDATION, a voluntary based Charity. Our mission is to represent the interests of many people affected by Branchio-oto-renal Syndrome and to improve their quality of life by providing support and information related to this Syndrome. We seek to educate both Medical Practitioners and the public by promoting Branchio-oto-renal (BOR) Syndrome awareness. Vision to Educate. Mission to Care.

http://www.thecainfoundation.com

Last Updated: 12 Oct 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Branchiootorenal Syndrome 1" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Branchiootorenal Syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.