Branchiootorenal syndrome

Diagnosis and Testing

Can a person receive a clinical diagnosis of branchiootorenal syndrome?

Branchiootorenal (BOR) syndrome can be diagnosed based on symptoms. Doctors have developed criteria for diagnosing BOR syndrome. Criteria are symptoms that when they occur together suggest a diagnosis. They are broken down into major and minor criteria. If three major, or if two major and two minor criteria, are present, a diagnosis is made. Major criteria are

  1. Hearing loss
  2. Malformation of the ears
  3. Preauricular pits, which are small passageways or 'tunnels' just underneath the skin near the ear that are not supposed to be there
  4. Abnormalities of the second branchial arch, which is a structure in a fetus that develops into the tissue of the front and side of the neck.
  5. Kidney problems

Minor criteria are:

  • Abnormalities of the external ear canal
  • Abnormalities of the middle ear
  • Abnormalities of the inner ear
  • Preauricular tags, which are small bumps or lesions near the ear
  • Other findings such as abnormalities of the roof of the mouth (palate).
References
  • Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1380/
  • Morisada N, Nozu K, Iijima K. Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. Pediatr Int. 2014;56(3):309-14.
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More Diagnosis and Testing Content

If a mother or father is affected with branchiootorenal syndrome , is there testing that can be performed during the pregnancy to see if their baby is affected?

Who else in my family should I test for branchiootorenal syndrome?

How does someone get tested for branchiootorenal syndrome?

Does it matter if you test blood vs. saliva vs biopsy for branchiootorenal syndrome?

Is there newborn testing for branchiootorenal syndrome?

Is there anything that can be seen on the ultrasound if my baby has brachiootorenal syndrome?

How do I get tested for branchiootorenal syndrome?

If a mother or father is affected with branchiootorenal syndrome , is there testing that can be performed during the pregnancy to see if their baby is affected?

Some parents may choose to have their child tested for branchiootorenal (BOR) syndrome before they are born. This is known as prenatal diagnosis. If the gene change(s) that causes BOR syndrome are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. A sample of tissue can be taken from the placenta to test for changes in the gene linked to that family. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied for changes in the gene. There are risks to the unborn baby of doing these tests before birth. Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
Who else in my family should I test for branchiootorenal syndrome?

In a family with branchiootorenal (BOR) syndrome, tests can be done to see whether other family members are carriers for the disorder. This can include at-risk young adults who do not yet show symptoms or have mild symptoms. However, the specific gene changes in that family needs to be known. If known, all siblings and other at-risk relatives can be tested. Molecular genetic testing, which are tests that look for changes to genes, can be performed. A newborn child in a family with a history of BOR syndrome should be tested through molecular genetic testing. Also, if a child is found to have a gene change, then testing can be offered to the parents. If the mother or father is found to have the same gene change, testing can be offered to additional children, siblings, and their parents.

Because this is autosomal dominant condition (only one altered gene is needed for the disorder to occur), people can be affected in each generation of a family. Each family's situation is different, and it is beneficial to meet with a medical geneticist and genetic counselor to discuss risks to other family members and for whom testing is most appropriate. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
How does someone get tested for branchiootorenal syndrome?

Genetic testing for branchiootorenal syndrome is typically ordered by a geneticist and genetic counselor after seeing them for an appointment. A clinic appointment typically involves a complete review of the patient's medical history, a three generation family history that documents health problems and genetic conditions, a detailed physical examination, discussion of recommended testing, and consent for genetic testing if the patient/guardian is interested. Sometimes this happens in one clinic visit, and sometimes this happens over the span of a few clinic visits. Each clinic is different. In terms of insurance, sometimes the clinic checks with your insurance, and sometimes it is your responsibility to call your insurance. As stated earlier, each clinic operates differently. If genetic testing is pursued, a blood sample and signed paperwork is sent to a laboratory that performs the testing. Results are then sent back to the geneticist and genetic counselor who contact the patient/guardian with results. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
  • Making Sense of Your Genes: A Guide to Genetic Counselling. National Society of Genetic Counselors; Genetic Alliance. Washington (DC): Genetic Alliance; 2008.
Does it matter if you test blood vs. saliva vs biopsy for branchiootorenal syndrome?

Genetic testing for branchiootorenal syndrome typically involves using a blood sample. Some laboratories accept saliva samples; it is best to call the lab to see if they accept a saliva sample beforehand. Biopsy is typically not performed for branchiootorenal syndrome genetic testing.

References
  • GeneTests website. https://www.genetests.org/
  • NextGxDx website. https://www.nextgxdx.com/
Is there newborn testing for branchiootorenal syndrome?

Each state has a newborn screen which includes a group of genetic conditions. Branchiootorenal (BOR) syndrome is not included in any newborn screens in the United States. If a baby appears to have health problems that could be caused by BOR syndrome, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Although branchiootorenal syndrome is not part of the recommended newborn screening panel, hearing loss is. If a child is born with hearing loss, BOR syndrome may be detected as the child is being evaluated for hearing loss.

Is there anything that can be seen on the ultrasound if my baby has brachiootorenal syndrome?

In some instances, features may be seen on prenatal ultrasound that raise suspicion for branchiootorenal (BOR) syndrome. An ultrasound is a test that uses reflected sounds waves to create a picture of the developing fetus. This test may be used for fetuses at risk for BOR syndrome. Certain kidney malformations can be noted. Oligohydramnios, or lack of amniotic fluid, may be seen as well. If your baby is at risk, these should be looked at carefully.

References
How do I get tested for branchiootorenal syndrome?

A diagnosis of branchiootorenal (BOR) syndrome is made by a physician. Because the disorder is rare, primary care physicians may be unfamiliar with it and its signs and symptoms. Sometimes a referral to a metabolic or genetic disease specialist is required before a diagnosis is reached. Doctors will make note of signs and symptoms that are common to BOR syndrome.

Doctors have developed criteria for diagnosing BOR syndrome. Criteria are symptoms that when they occur together suggest a diagnosis. They are broken down into major and minor criteria. If three major, or if two major and two minor criteria are present, a diagnosis of BOR syndrome is made.

Major criteria are hearing loss; malformation of the ears; small passageways or 'tunnels' just underneath the skin near the ear that are not supposed to be there (preauricular pits); abnormalities of the second branchial arch, which is a structure in a fetus that develops into the tissue of the front and side of the neck; and kidney problems. Minor criteria are abnormalities of the external ear canal, abnormalities of the middle ear, abnormalities of the inner ear, small bumps or lesions near the ear (preauricular tags) or other findings such as abnormalities of the roof of the mouth (palate).

Molecular genetic testing can also be used to confirm a diagnosis. These tests involve studying one of the three genes for changes that cause the disorder. This can include target analysis, where specific known mutations in the gene are looked for; sequence analysis, where a part or sequence of DNA within a gene is examined; or gene-targeted deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories.

A medical professional nearby who can discuss information and testing. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References

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