Branchiootorenal syndrome

Branchiootorenal (BOR) syndrome is a genetic condition and there is no cure. A person will never outgrow the disorder. People with branchiootorenal syndrome will receive periodic evaluations to see whether the disorder progresses, (hearing loss gets worse, kidney problems develop, etc.).

Researchers believe that branchiootorenal (BOR) syndrome has complete penetrance. Penetrance is the proportion of people with a disease-causing change (mutation) in one of the three genes known to cause the disorder who eventually develop symptoms. Complete penetrance means that 100% of the people who have a gene change will develop symptoms. However, the symptoms that do develop can be very different among individuals with this disorder. This is called variable expressivity.

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.

Support groups can put you in contact with other people or families that have branchiootorenal (BOR) syndrome. Support groups include the Cain Foundation for Branchio-oto-renal (BOR) Syndrome is located in Australia. There are no U.S. support groups for BOR syndrome.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

Some social networking websites such as Facebook may have groups or communities for BOR syndrome.

The medical cost of branchiootorenal (BOR) syndrome can be significant. Some families lack the resources necessary to provide for a chronically ill or disabled child. There are several organizations that provide financial assistance.

The Social Security Administration provides disability benefits for people who qualify. BOR syndrome is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, people with BOR syndrome may still qualify for assistance if they have certain symptoms that qualify.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with branchiootorenal (BOR) syndrome. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for BOR syndrome include the Cain Foundation for Branchio-Oto-Renal syndrome.

More than 90% of people with branchiootorenal syndrome have hearing loss. The degree of hearing loss can vary greatly from mild to moderate to severe to profound.

The ‘branchio’ in branchiootorenal (BOR) syndrome refers to the second branchial arch, a structure in a fetus that develops into the tissue of the front and side of the neck. People with BOR syndrome may have small growths or masses on the necks called brachial clefts or branchial cysts. These cysts can become infected. There may be tiny holes in the lower part of the neck that connect to the throat through an abnormal passageway or ‘tunnel’ (branchial fistula).

There can be kidney problems in branchiootorenal (BOR) syndrome. Some people are mildly affected and some people are severely affected. The kidneys may not be the normal shape. There may be an extra collecting system. Inflammation of the filtering structures (glomeruli) of the kidneys (glomerulonephritis) has also been reported in BOR syndrome. This condition can lead to poor kidney function and potentially kidney failure. Some people may develop scarring or hardening of tiny blood vessels within the kidneys, a condition called glomerulosclerosis. This condition can also hamper kidney function and potentially lead to kidney failure. Some people experience end-stage renal disease (ESRD).

Sometimes infants are missing one or both kidneys. When both kidneys are missing; this usually leads to a miscarriage during pregnancy or death shortly after birth. Not all people with BOR syndrome will develop kidney disease.

The medical abbreviation for branchiootorenal syndrome is BOR syndrome.

For most people, branchiootorenal (BOR) syndrome does not change life expectancy and many people will have a normal life span. The major life-threatening feature of this condition is kidney problems, which can lead to end-stage renal disease and require a transplant. In rare instances, a baby may be missing both kidneys, which usually leads to a miscarriage during pregnancy or death shortly after birth. With treatment, most people with BOR syndrome can lead normal, productive lives.

Branchiootic syndrome is similar to branchiootorenal syndrome. They are caused by different changes (mutations) in the same gens. The key difference is found in their names. Branchiootic (branchioto) syndrome lacks the term ‘renal.’ Renal is the medical term for the related to the kidneys. People with branchiotic syndrome do not have kidney problems. People with branchiootorenal syndrome may or may not have kidney changes. Some doctors may use the term branchiootorenal spectrum disorders as an "umbrella" term for all people with these disorders.

Branchiootorenal syndrome or BOR syndrome is a rare genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Because of a change in one of at least three different genes, people with BOR syndrome lack a protein. These proteins are vital to the health and development of the body. If these proteins are missing or ineffective, it will lead to lots of different problems in the body, particularly in the "branchio", which refers to the second branchial arch, a structure in a fetus that develops into the tissue of the front and side of the neck; "oto", which refers to the ears, and "renal", which refers to the kidneys. The signs and symptoms can vary significantly among people with this disorder, including among family members. BOR syndrome causes hearing loss, malformations of the ears, tiny holes in the lower part of the neck (branchial fistula), small growths or masses on the neck (branchial clefts), and kidney problems ranging from underdeveloped kidneys, progressive problems with kidney function, and sometimes missing kidneys. BOR syndrome is caused by alterations (mutations) in the EYA1, SIX1, or SIX5 gene. Some people do not have an alteration in any of these three genes. They may have the disorder because of a change in a different gene that doctors have not yet identified.

Branchiootorenal (BOR) syndrome is caused by gene changes in one of at least three different genes. These are known as the EYA1, SIX1, or SIX5 genes. Gene changes in the EYA1 gene is the most common cause of BOR syndrome. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly.

Changes in the EYA1 gene are the most common cause of BOR syndrome. About 40% of people have a change in this gene. Changes in the SIX1 or SIX5 genes both account for about 2% of people with this disorder. Some people with BOR syndrome do not have a change in any of these three genes. This means there are additional genes that can cause BOR syndrome, but researchers haven’t determined what they are yet.

A genetics medical professional nearby can discuss information about gene changes in BOR syndrome. 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.

More than 90% of people with BOR syndrome have problems with the ears. People can have mixed, conductive or sensorineural hearing loss. The ear is made up of three parts – the outer ear, the middle ear and the inner ear. Conductive hearing loss is when there is a problem conducting sound waves through the outer or middle ear. Sensorineural hearing loss occurs when there is damage to the inner ear, or damage to nerve pathways that connect the inner ear to the brain. Sensorineural hearing loss cannot be corrected by surgery or with medicine. Mixed hearing loss is a combination of conductive and sensorineural hearing loss. In BOR syndrome, mixed hearing loss is the most common type. The degree of hearing loss can vary greatly from mild to moderate to severe to profound. Sometimes, hearing loss will get worse. In some children, hearing loss will be severe enough to interfere with the development of language and speech.

There may be malformations of the ear as well. These malformations include the top part of the ear being folded over, wrinkled or tight; narrowing of the external ear canal, which is the small passageway that connects internal structures of the ear to the outside of the head; small bumps or lesions near the ear (preauricular tags); malformation, dislocation or abnormal positioning of the very small bones of the middle ear; a reduction in space within the middle ear; and underdevelopment of the spiral-shaped cavity of the inner ear. Some individuals also have preauricular pits, which are small passageways or ‘tunnels’ just underneath the skin that are not supposed to be there. A preauricular pit runs from a tiny opening right in front of the ear to deep within the underlying tissue.

The U.S. Centers for Disease Control and Prevention (CDC) has a detailed guide that discusses genetics and hearing loss called, A Parent’s Guide to Genetics & Hearing Loss.

Branchiootorenal (BOR) syndrome is caused by a change (variant) in one of three different genes, the EYA1, SIX1 or SiX5 genes. Not all changes in a gene necessarily cause disease. If a change is known to cause BOR syndrome, it is known as a pathogenic or disease-causing variant. Sometimes gene changes are found and scientists are unsure what it means, either because it has not been found before or has only been found in a few people. This is known as a variant of unknown significance. If you have a variant of unknown significance in one of these three genes, talk to your doctor about further testing that may help find out whether the gene change is pathogenic or not. A genetic counselor may also be able to help you review your test results. 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.

A spectrum means that there is a range of how people are affected. Not everyone with branchiootorenal (BOR) syndrome is affected in the same way. Some people are mildly affected and some people are more severely affected. Not everyone has all the same medical concerns. Some people in one family may have ear and kidney problems, while another person in the same family may have ear and neck problems. Two people in a family may have kidney problems, but one person may be more seriously affected.

Changes in three different genes are known to cause BOR syndrome. Sometimes people who have problems with their ears and neck, but no kidney problems are classified as having branchiootic (BO) syndrome rather than BOR syndrome.

A medical professional nearby can discuss information about BOR syndrome. 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.

Rare diseases that affect multiple organ systems like branchiootorenal (BOR) syndrome can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a specialist for kidney disorders (nephrologist) who will monitor the function and health of the kidneys; a doctor (otolaryngologist) who can monitor lung function and health and treat problems with the ears; a doctor (audiologist) who can monitor and treat hearing loss; a doctor (urologist) who can diagnose and treat problems with the urinary system; surgeons; a genetic counselor who can help people understand the disease and the implications for the person and other family members; and a metabolic disease specialist.

Talk to your doctor about the best specialists in your area to follow an individual with BOR syndrome. 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.

When infants and children have a chronic disorder like branchiootorenal disease, it demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

Branchiootorenal (BOR) syndrome can cause lots of different symptoms. It can cause different symptoms in different people. The severity of those symptoms can be different as well. Every person with this disorder is unique and how the disorder develops and progresses in each person will be unique as well. This is true even for people in the same family. BOR is an acronym that stands for (b)ranchio, which refers to the second branchial arch, a structure in a fetus that develops into the tissue of the front and side of the neck; (o)to, which refers to the ears, and (r)enal, which refers to the kidneys.

People with BOR syndrome may have small growths or masses on the necks called brachial clefts or branchial cysts. These cysts can become infected. There may be tiny holes in the lower part of the neck that connect to the throat through an abnormal passageway or ‘tunnel’ (branchial fistula).

More than 90% of people with BOR syndrome have problems with the ears. People can have mixed, conductive or sensorineural hearing loss. The ear is made up of three parts – the outer ear, the middle ear and the inner ear. Conductive hearing loss is when there is a problem conducting sound waves through the outer or middle ear. Sensorineural hearing loss occurs when there is damage to the inner ear, or damage to nerve pathways that connect the inner ear to the brain. Sensorineural hearing loss cannot be corrected by surgery or with medicine. Mixed hearing loss is a combination of conductive and sensorineural hearing loss. In BOR syndrome, mixed hearing loss is the most common type. The degree of hearing loss can vary greatly from mild to moderate to severe to profound. Sometimes, hearing loss will get worse. In some children, hearing loss will be severe enough to interfere with the development of language and speech.

There may be malformations of the ear as well. These malformations include the top part of the ear being folded over, wrinkled or tight; narrowing of the external ear canal, which is the small passageway that connects internal structures of the ear to the outside of the head; small bumps or lesions near the ear (preauricular tags); malformation, dislocation or abnormal positioning of the very small bones of the middle ear; a reduction in space within the middle ear; and underdevelopment of the spiral-shaped cavity of the inner ear. Some individuals also have preauricular pits, which are small passageways or ‘tunnels’ just underneath the skin that are not supposed to be there. A preauricular pit runs from a tiny opening right in front of the ear to deep within the underlying tissue.

Some individuals with BOR syndrome have problems with the kidneys. The kidneys may be underdeveloped or malformed. Sometimes one or both kidneys are missing at birth. When both kidneys are missing this usually leads to a miscarriage during pregnancy or death shortly after birth. Swelling of the kidneys because of a backup of urine can occur. Later in life, end stage renal failure may develop, requiring dialysis and possibly a kidney transplant.

After a diagnosis of branchiootorenal (BOR) syndrome is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in the disorder. People diagnosed with BOR syndrome will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

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.

The Cain Foundation for Branchio-Oto-Renal Syndrome may have information on research into the disorder.

For the most up-to-date list, visit clinical trials.gov and search for branchiootorenal 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.

There is no one treatment that can improve all the symptoms of branchiootorenal (BOR) syndrome. Treatment is aimed at the specific symptoms of the condition. BOR syndrome causes problems with the neck, ears, kidneys and other organ systems.

In children with hearing loss, treatment depends on the type of hearing loss they have. It may include hearing aids or surgery. Speech therapy may help children having difficulty learning to talk because of hearing problems. Surgery may also be necessary to remove the abnormal passages or "tunnels" (fistulae and cysts) that may be in the neck. The fistulae or cysts can become infected requiring treatment with antibiotics.

Treatment of kidney problems follows standard guidelines. If kidney problems progress to end stage renal failure, in which the kidneys can no longer function properly, dialysis and potentially a kidney transplant may be required.

Eating right and getting proper nutrition is important for everyone. Physicians encourage people with branchiootorenal (BOR) syndrome to exercise and eat healthy. There are no dietary restrictions for people with BOR syndrome Individuals and families dealing with a diagnosis of BOR syndrome should talk to their medical team about eating right and proper nutrition.

This is very common question about a lot of genetic disorders. Branchiootorenal (BOR) syndrome is called a genetic disorder because we know it is caused by a change or mistake in the body’s genetic instructions. Children with BOR syndrome have a gene change affecting either the EYA1, the SIX1, or the SIX5 gene. However, just because a disorder has a genetic cause that does not mean that the disorder is inherited. Sometimes mutations, or gene changes, are passed through families. However, other times mutations can also happen at random. Most children inherited the disorder from an affected parent. A small percentage do not inherit the disorder. The gene change that affects them happens randomly for no known reason. Talk to a genetic counselor to learn more about the genetics of BOR syndrome. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

If you have branchiootorenal syndrome, your primary care provider should know that you should have continued hearing evaluations because sometimes hearing worsens over time. Your primary care provider should also know that continued follow up with a kidney specialist is needed as well. They should also do comprehensive physical examinations at each visit to look for brachial clefts/cysts and ear differences. Medications that can possibly cause kidney damage should also be avoided.

Individuals who have branchiootorenal syndrome (BOR) should talk to their doctor and make sure their doctor is aware they have the condition before getting any prescription medications. It is important for people with BOR syndrome to avoid medications that might cause kidney complications. Speak with your doctor or pharmacist about risks associated with any medications.

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.

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In branchiootorenal (BOR) syndrome, some people who have the disorder are the first person in the family with the disorder. This occurs because of a de novo mutation, which means that the altered gene occurs randomly, most likely after fertilization. In families with a child with a de novo mutation, the likelihood of having another child with BOR syndrome is extremely low.

However, more often BOR syndrome is inherited from a parent. A person who has the disorder could pass on the gene alteration in an autosomal dominant manner. This means a child only needs one altered gene to have the disorder. So, a person with BOR syndrome would have a 50% chance passing on the gene change to a child.

If you have a family member with BOR syndrome and you would like to learn more about the genetics of the disorder, talk to your doctor or meet with a genetic counselor to discuss testing options. 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.

Branchiootorenal (BOR) syndrome is inherited in an autosomal dominant manner. This is one way a disorder or trait can be passed down through a family. The first word, "autosomal," means on a chromosome that both males and females carry. Therefore, BOR syndrome can affect either gender. The second word, "dominant," means a change in one copy of the altered gene that causes the disorder is enough for them to develop BOR syndrome. Three genes that, when altered or mutated, are known to cause this disorder. They are the EYA1, SIX1, or SIX5 genes. Everyone has two copies of every gene – one inherited from our mother and one from our father – for a dominant condition, only one of them needs to have the problem. This means that if a parent carries altered EYA1, SIX1, or SIX5 gene, they have a 50% chance to pass the affected gene to each of their offspring, regardless of gender. This also means that there is a 50% chance that an affected parent would not pass this on to their children. Genetic testing may be available to determine if a child has inherited the altered gene.

In about 10% of people, there is no previous history of BOR syndrome in the family. The altered gene occurs randomly, most likely after fertilization. This is also called a de novo mutation. The altered gene in the child can be passed on as an autosomal dominant trait. In families with a child with a de novo mutation, the likelihood of having another child with BOR syndrome is extremely low.

If you have a family member with BOR syndrome and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options. 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.

There are three genes that are linked to branchiootorenal (BOR) syndrome. BOR syndrome is caused by a change or alteration in one of these genes. The genes are called EYA1, SIX1, and SIX5. These genes produce proteins. These proteins are active in the developing fetus and are vital to the proper development of the ears, the second branchial arch and the kidneys. The second branchial arch is a structure in a fetus that develops into the tissue of the front and side of the neck. When there is a change in a gene, the protein that gene produces may be ineffective, or the gene may not produce enough of the protein. Generally, the more residual protein activity a person has, the less severe the disorder will be.

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.

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.

To learn about ongoing clinical research into branchiootorenal (BOR) syndrome ask a physician who specializes in the disorder genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial. 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.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. Support groups for BOR syndrome include the Cain Foundation for Branchio-Oto-Renal Syndrome.

Clinical research can also be found on the following:

There are no specific centers of excellence for branchiootorenal (BOR) syndrome in the United States. The Hereditary Hearing Loss Homepage is a website that "aims to give an up-to-date overview of the genetics of hereditary hearing impairment for researchers and clinicians working in the field." This website is run by two physicians, one at the University of Antwerp in Belgium and one at the University of Iowa. They may be able to provide advice to families about physicians with experience in treating BOR syndrome.

Some people with branchiootorenal (BOR) syndrome find it challenging when it’s time to move (transition) from pediatric to adult care services. One big change is leaving a doctor with whom you have a long-standing relationship, a doctor who is familiar with both your condition and yourself. It can feel like ‘starting over’ as you’ll begin to work with new doctors and a new medical team. Another challenge in moving to adult care is that young adults must take greater responsibility for their health. They must manage their disorder and any medications. They must bear greater responsibility for decisions concerning their health. Some hospitals have programs to help children with chronic disease transition to adult care services. Talk to your child’s doctor about how and when to take steps to begin transition to adult care.

Children with branchiootorenal (BOR) syndrome can attend school. They may attend a special school or be in a class for children with disabilities or hearing loss. Children with BOR syndrome may need special accommodations. Because they may need special accommodations in school, they may eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on BOR syndrome and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

Branchiootorenal (BOR) syndrome is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the amount of new people with a disorder or newly-diagnosed. Two studies of people with symptoms of BOR syndrome placed the prevalence at 1 in 700,000 people in the general population, and 1 in 40,000 in the general population. Most likely the true prevalence is somewhere in between these estimates.

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.

The medical literature does not talk about branchiootorenal (BOR) syndrome affecting fertility or pregnancy. If a person with BOR syndrome passes on the altered gene to their offspring, there is a chance that the kidneys will fail to develop. This can cause a miscarriage or death shortly after birth.

People with branchiootorenal (BOR) syndrome are affected differently and it is difficult to predict medical concerns at birth. Some people are more mildly affected and some people are more severely affected. Some people have severe kidney problems and some have mild. People with branchiootic syndrome don’t have any kidney problems. This variability is even true for members of the same family.

Individuals with branchiootorenal (BOR) syndrome should receive an evaluation for hearing loss. They should receive a follow up examination twice a year and once a year receive a test called an audiometry, which evaluates a person’s ability to hear sounds. Some individuals may need to be seen twice a year by a kidney specialist (nephrologist) or a specialist in diagnosing and treating problems with the urinary system (urologist).

Preimplantation genetic diagnosis (PGD) in which embryos can be genetically tested is also available. During this process, embryos are created through in vitro fertilization (IVF) by taking eggs from the mother and sperm from the father. The two are then combined in the laboratory. A few cells are removed from the embryo and are then tested to determine whether or not that specific embryo inherited the altered gene that causes BOR syndrome in that family. Then, the family can choose to only have the embryos without the altered gene transferred to create the pregnancy.

Genetic counselors are great resources to help families discuss the options for family planning. TGenetic 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.

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

Branchiootorenal (BOR) syndrome is caused by a change in one of three genes, called EYA1, SIX1, and SIX5. About 40% of people have a change in the EYA1 gene. Sometimes this called branchiootorenal syndrome type 1. Only about 2% of people have a change in the SIX1 gene, which is called branchiootorenal syndrome 2. Only 2% of people have a change in the SIX5 gene, which is sometimes called branchiootorenal syndrome 3. Some people are classified as having branchiootic syndrome, which is the same as BOR syndrome, but without the kidney problems. The health problems associated with the different types overlap.

A genetics medical professional nearby can discuss information about gene changes in these genes and BOR syndrome. 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.

Doctors usually use BOR syndrome when referring to this disorder. BOR is an acronym for (b)ranchio, which refers to the second branchial arch, a structure in a fetus that develops into the tissue of the front and side of the neck; (o)to, which refers to the ears, and (r)enal, which refers to the kidneys. Sometimes branchiootorenal syndrome is hyphenated: branchio-oto-renal syndrome.

Other names for BOR syndrome are Melnick-Fraser syndrome, which are the last names of two doctors who separately described the disorder in the medical literature in the 1970s. Sometimes the disorder is called branchiootorenal dysplasia. Dysplasia is the medical term for malformation.

The term branchiootic syndrome is used for people who have the symptoms of this disorder without any kidney problems. People with BOR syndrome and branchiootic syndrome have changes in the same genes. Some doctors may use the term branchiootorenal spectrum disorders as an "umbrella" term for all the people with these disorders.

The three main areas affected by the branchiootorenal (BOR) syndrome are the second branchial arch, ears and hearing and the kidneys. The second branchial arch is a structure in a fetus that develops into the tissue of the front and side of the neck.

There are symptoms that occur less often in BOR syndrome including a short roof of the mouth (palate), cleft palate, failure of the tear ducts to develop, and overgrowth of the thyroid. The jaws may be set back (an underbite). There may be paralysis of some of the facial nerves. Because of facial nerve paralysis, certain nerves that should run to the salivary glands attach to the tear ducts causing a person to cry when eating, a condition called gustatory lacrimation.

Other rare genetic disorders can be similar to branchiootorenal (BOR) syndrome. In fact, there are more than 400 different genetic disorders that are associated with hearing loss. Some of these that may be similar to BOR syndrome include:

Branchiootorenal (BOR) syndrome is a genetic disorder. People get the disorder because they have a change (mutation) in a specific gene that can cause the disorder. As of January 2017, only about 45% of people have a detectable gene change (mutation). About 40% of these people have a mutation in EYA1 gene (branchiootorenal syndrome 1), 2.5% have a mutation in the SIX5 gene (branchiootorenal syndrome 2), and 2% have a mutation in the SIX1 gene (branchiootorenal syndrome 3). There are likely other genes that when altered can cause the disorder, but they are currently unknown. These other genetic causes of BOR syndrome may be discovered in the future.

Infants with branchiootorenal (BOR) syndrome show symptoms within the early stages of life. The first few years of a child’s life are critically important to a child’s development. Children who experience hearing loss at a young age can benefit from such programs. States have federally-funded early intervention programs that support families that have concerns or issues with their children’s development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) provides information about early intervention programs and assistance.

There are support groups for branchiootorenal (BOR) syndrome. Some are specific for branchiootorenal syndrome, and some are for certain features of this condition. They are the following:

The Cain Foundation for Branchio-oto-renal (BOR) Syndrome is located in Australia. There are no U.S. support groups for BOR syndrome.

American Academy of Audiology
11480 Commerce Park Drive
Suite 220
Reston, VA 20191
Phone: (703) 790-8466
Toll-free: (800) 222-2336
Email: [link url="[email protected]” target=”_blank”>[email protected]
Website: http://www.audiology.org

American Society for Deaf Children
800 Florida Avenue NE, #2047
Washington, DC 20002-3695
Phone: (866) 895-4206
Toll-free: (800) 942-2732
Email: [link url="[email protected]” target=”_blank”>[email protected]
Website: http://www.deafchildren.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Phone: (650) 462-3174
Email: [link url="[email protected]” target=”_blank”>[email protected]
Website: http://www.letthemhear.org

National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Phone: (212) 889-2210
Toll-free: (800) 622-9010
Email: [link url="[email protected]” target=”_blank”>[email protected]
Website: http://www.kidney.org

National Association of the Deaf (NAD)
8630 Fenton Street, Suite 820
Silver Spring MD 20910
Phone: 301-587-1788; 301-587-1789 (TTY)
Fax: 301-587-1791
Email: [link url="[email protected]” target=”_blank”>[email protected]
www.nad.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
Phone: (301) 496-3583
Email: [link url="[email protected]” target=”_blank”>[email protected]
Website:[link url=" http://www2.niddk.nih.gov/” target=”_blank”> http://www2.niddk.nih.gov/

People with kidneys problems related to branchiootorenal (BOR) syndrome need to avoid any medications that could affect the function of their kidneys. Talk to your doctor or kidney specialist to determine whether a specific medication is safe.