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Branchiootorenal syndrome

Other Names for this Disease
  • BOR syndrome
  • Branchio oto renal syndrome
  • Branchiootorenal dysplasia
  • Melnick-Fraser syndrome
More Names
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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]



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. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=deafness-overview. Accessed January 8, 2010.
  3. Swiatecka-Urban A. Multicystic Renal Dysplasia. eMedicine. http://emedicine.medscape.com/article/982560-overview. Accessed January 8, 2010.
  4. Niaudet P. Branchiootorenal (BOR) syndrome. Orphanet. Accessed January 8, 2010.
  5. Branchiootorenal syndrome. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome. Accessed January 8, 2010.
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General Information

  • Genetics Home Reference (GHR) contains information on Branchiootorenal syndrome. Click on the link to go to GHR and review the information.
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Branchiootorenal syndrome. Click on the link to go to OMIM and review these resources.