Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Branchiootorenal syndrome


Other Names for this Disease

  • BOR syndrome
  • Branchio oto renal syndrome
  • Branchiootorenal dysplasia
  • Melnick-Fraser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2][3][4][5] 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.[2][4]

Last updated: 2/28/2011

References

  1. Husein M, Smith JH. Genetic Sensorineural Hearing Loss. In: Cummings et al., eds. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, PA: Mosby, Inc; 2005;
  2. Smith RJH, Van Camp G. Deafness and Hereditary Hearing Loss Overview. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=deafness-overview. Accessed 1/8/2010.
  3. Swiatecka-Urban A. Multicystic Renal Dysplasia. eMedicine. 2009; http://emedicine.medscape.com/article/982560-overview. Accessed 1/8/2010.
  4. Niaudet P. Branchiootorenal (BOR) syndrome. Orphanet. 2007; Accessed 1/8/2010.
  5. Branchiootorenal syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome. Accessed 1/8/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Branchiootorenal syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Branchiootorenal syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Branchiootorenal syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BOR syndrome
  • Branchio oto renal syndrome
  • Branchiootorenal dysplasia
  • Melnick-Fraser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.