Branchiootorenal syndrome

Common Name(s)

Branchiootorenal syndrome

Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion. Treatment may include surgery to remove the anomalies of the neck (i.e., branchial fistulae or cysts), careful assessment and management of hearing loss, and follow-up by a kidney specialist (nephrologist). In some cases dialysis or kidney transplant may be required.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Branchiootorenal syndrome" 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

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General Support Organizations

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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" returned 1 free, full-text research articles on human participants. First 3 results:

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
 

Author(s): Zhishuo Ou, Donna M Martin, Jirair K Bedoyan, M Lance Cooper, A Craig Chinault, Pawel Stankiewicz, Sau W Cheung

Journal: Am. J. Med. Genet. A. 2008 Oct;146A(19):2480-9.

 

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). Chromosomal microarray analysis (CMA) initially revealed a copy-number ...

Last Updated: 30 Sep 2008

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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" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.