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|
Hearing defect[ 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|
Absent/underdeveloped kidney[ more ]
|Stenosis of the external auditory canal||0000402|
|5%-29% of people have these symptoms|
|Abnormal lacrimal duct morphology||0011481|
|Multicystic kidney dysplasia||0000003|
Renal failure in adulthood[ more ]
Receding lower jaw
Weak 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
Underdeveloped ears[ 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|
|Abnormality of the cerebrum||0002060|
|Abnormality of the renal collecting system||0004742|
Dislocated hip since birth
|Dilatated internal auditory canal||0004458|
Increased palatal height[ more ]
|Incomplete partition of the cochlea type II||0000376|
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|
Missing kidney[ 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.
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,
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.
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.
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