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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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.

Symptoms

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What are the signs ans symptoms of branchiootorenal syndrome?

Signs and symptoms of branchiootorenal syndrome can vary greatly from person to person and even between people within the same family.[1] Hearing loss is the most common symptom and is shared by approximately 90% of people with this syndrome. Hearing loss may be conductive, sensorineural, or a combination of both.[2][3] Other common signs and symptoms include branchial cleft cysts, branchial fistulae, outer, middle, and inner ear malformations, and kidney malformations.[4][2][5][1] Specifically mutations in the EYA1 or SIX1 genes can be associated with kidney malformations.[5]

You can find more details regarding the signs and symptoms of branchiootorenal syndrome by visiting the Genetic Home Reference Web site at the following link:
http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome
Last updated: 2/28/2011

References
  1. Niaudet P. Branchiootorenal (BOR) syndrome. Orphanet. 2007; Accessed 1/8/2010.
  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. Branchiootorenal syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome. Accessed 1/8/2010.
  4. Husein M, Smith JH. Genetic Sensorineural Hearing Loss. In: Cummings et al., eds. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, PA: Mosby, Inc; 2005;
  5. Swiatecka-Urban A. Multicystic Renal Dysplasia. eMedicine. 2009; http://emedicine.medscape.com/article/982560-overview. Accessed 1/8/2010.


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.