National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Branchiootorenal syndrome


Other Names:
Branchiootorenal dysplasia; Melnick-Fraser syndrome; Branchio oto renal syndrome; Branchiootorenal dysplasia; Melnick-Fraser syndrome; Branchio oto renal syndrome; BOR syndrome See More
Categories:
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
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 50 |
Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
30%-79% of people have these symptoms
Abnormality of the middle ear ossicles 0004452
Atresia of the external auditory canal
Absent ear canal
0000413
Branchial cyst 0009796
Enlarged cochlear aqueduct 0011388
External ear malformation 0008572
Hypoplasia of the cochlea 0008586
Preauricular skin tag 0000384
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ] 		0008678
Stenosis of the external auditory canal
Narrowing of passageway from outer ear to middle ear
0000402
5%-29% of people have these symptoms
Abnormal lacrimal duct morphology 0011481
Cleft palate
Cleft roof of mouth
0000175
Facial palsy
Bell's palsy
0010628
Hydronephrosis 0000126
Multicystic kidney dysplasia 0000003
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Ureteropelvic junction obstruction 0000074
Vesicoureteral reflux 0000076
1%-4% of people have these symptoms
Cupped ear
Cup-shaped ears
Simple, cup-shaped ears
[ more ] 		0000378
Lacrimal duct aplasia
Absent tear duct
0007925
Lacrimal duct stenosis
Narrowing of the tear duct
0007678
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
Mixed hearing impairment
Hearing loss, mixed
Mixed hearing loss
[ more ] 		0000410
Preauricular pit
Pit in front of the ear
0004467
Percent of people who have these symptoms is not available through HPO
Abnormal cerebral morphology 0002060
Abnormal renal collecting system morphology 0004742
Autosomal dominant inheritance 0000006
Bifid uvula 0000193
Branchial fistula 0009795
Cholesteatoma 0009797
Congenital hip dislocation
Dislocated hip since birth
0001374
Dilatated internal auditory canal 0004458
Euthyroid goiter 0009798
Gustatory lacrimation 0100274
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Incomplete partition of the cochlea type II 0000376
Incomplete penetrance 0003829
Intestinal malrotation 0002566
Lacrimation abnormality
Abnormality of tear production
0000632
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Microdontia
Decreased width of tooth
0000691
Narrow face
Decreased breadth of face
Decreased width of face
[ more ] 		0000275
Overbite 0011094
Polycystic kidney dysplasia 0000113
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Renal dysplasia 0000110
Renal malrotation
Abnormal rotation of the kidneys
0004712
Renal steatosis
Fatty kidney
0000799
Variable expressivity 0003828
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Last updated: 7/1/2020
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
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

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My daughter was diagnosed with branchiootorenal syndrome a few years ago, and her kidneys were checked and appeared to be normal. The nephrologist recommended that we keep an eye on them and check them periodically. Is there any data that would suggest that kidney problems could occur or show up later? See answer

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


  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.
  6. What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. January 25, 2016; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns.