Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Branchiootorenal dysplasia; Melnick-Fraser syndrome; Branchio oto renal syndrome;
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Kidney and Urinary Diseases;
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:
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the middle ear ossicles||0004452|
|Atresia of the external auditory canal||
Absent ear canal
|Enlarged cochlear aqueduct||0011388|
|External ear malformation||0008572|
|Hypoplasia of the cochlea||0008586|
|Preauricular skin tag||0000384|
[ more ]
|Stenosis of the external auditory canal||
Narrowing of passageway from outer ear to middle ear
|5%-29% of people have these symptoms|
|Abnormal lacrimal duct morphology||0011481|
Cleft roof of mouth
|Multicystic kidney dysplasia||0000003|
Renal failure in adulthood
[ more ]
Receding lower jaw
[ more ]
|Ureteropelvic junction obstruction||0000074|
|1%-4% of people have these symptoms|
Simple, cup-shaped ears
[ more ]
|Lacrimal duct aplasia||
Absent tear duct
|Lacrimal duct stenosis||
Narrowing of the tear duct
[ more ]
|Mixed hearing impairment||
Hearing loss, mixed
Mixed hearing loss
[ more ]
Pit in front of the ear
|Percent of people who have these symptoms is not available through HPO|
|Abnormal cerebral morphology||0002060|
|Abnormal renal collecting system morphology||0004742|
Dislocated hip since birth
|Dilatated internal auditory canal||0004458|
Increased palatal height
[ more ]
|Incomplete partition of the cochlea type II||0000376|
Abnormality of tear production
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
Decreased width of tooth
Decreased breadth of face
Decreased width of face
[ more ]
|Polycystic kidney dysplasia||0000113|
[ more ]
Abnormal rotation of the kidneys
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.
- 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.
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.
Treatment of branchial fistulae or cysts may require surgery. For people with branchiootorenal syndrome and severe kidney malformations or complications,
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.
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.
- 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.
- 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.
- Husein M, Smith JH. Genetic Sensorineural Hearing Loss. In: Cummings et al., eds. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, PA: Mosby, Inc; 2005;
- Smith RJH, Van Camp G. Deafness and Hereditary Hearing Loss Overview. GeneReviews. 2008; https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=deafness-overview. Accessed 1/8/2010.
- Swiatecka-Urban A. Multicystic Renal Dysplasia. eMedicine. 2009; https://emedicine.medscape.com/article/982560-overview. Accessed 1/8/2010.
- Niaudet P. Branchiootorenal (BOR) syndrome. Orphanet. 2007; Accessed 1/8/2010.
- Branchiootorenal syndrome. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome. Accessed 1/8/2010.
- What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. January 25, 2016; https://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns.