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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
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Your Question

What is branchiootorenal syndrome? How can I learn more about this condition? How can I find a specialist?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is 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.[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

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.[4] 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][5] Other common signs and symptoms include branchial cleft cysts, branchial fistulae, outer, middle, and inner ear malformations, and kidney malformations.[1][2][3][4] Specifically mutations in the EYA1 or SIX1 genes can be associated with kidney malformations.[3]

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

What causes branchiootorenal syndrome?

Mutations in the genes, EYA1, SIX1, and SIX5, are known to cause branchiootorenal syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 and SIX5 mutations are much less common causes of the disorder.[5] There are likely other genes that have not yet been identified that when mutated can cause this syndrome as well.[2]
Last updated: 2/28/2011

Is branchiootorenal syndrome inherited?

Branchiootorenal syndrome may be inherited or occur sporadically. The inheritance pattern of branchiootorenal syndrome is autosomal dominant. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Autosomal dominant conditions may occur for the first time in a person in a family due to a spontaneous gene mutation, or these conditions may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.[6]
Last updated: 2/28/2011

How might branchiootorenal syndrome be treated?

Hereditary hearing loss conditions, in general, tend to be managed by a team that includes an otolaryngologist, an audiologist, a clinical geneticist, a pediatrician, sometimes an educator of the Deaf, a neurologist, and in case of branchiootorenal syndrome, a nephrologist (kidney doctor). Treatment of hearing loss may include determining which aids would be most helpful, for example hearing aids or vibrotactile devices; cochlear implantation may be considered in children over age 12 months with severe-to-profound hearing loss. Early hearing intervention through amplification, surgery, or cochlear implantation may be recommended for children who are at risk to lose their hearing before they learn to speak.[2]

People with hereditary hearing loss often require regular follow-up with a hearing specialist such as an audiologist to monitor stability or progression of the hearing loss.[2]

Treatment of branchial fistulae or cysts may require surgery. For people with branchiootorenal syndrome and severe kidney malformations or complications, dialysis or kidney transplant may be required.[4]

Last updated: 2/28/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

References