The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the inner ear||50%|
|Abnormality of the middle ear||50%|
|External ear malformation||50%|
|Mixed hearing impairment||50%|
|Preauricular skin tag||50%|
|Stenosis of the external auditory canal||30%|
|Lacrimal duct aplasia||25%|
|Lacrimal duct stenosis||25%|
|Atresia of the external auditory canal||7.5%|
|Multicystic kidney dysplasia||7.5%|
|Abnormality of the cerebrum||-|
|Abnormality of the renal collecting system||-|
|Autosomal dominant inheritance||-|
|Congenital hip dislocation||-|
|Dilatated internal auditory canal||-|
|Hypoplasia of the cochlea||-|
|Incomplete partition of the cochlea type II||-|
|Polycystic kidney dysplasia||-|
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, dialysis or kidney transplant may be required.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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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