Branchiootorenal Spectrum Disorders

Branchiootorenal spectrum disorders are inherited as autosomal dominant genetic conditions that can vary greatly from one person to another, even in members of the same family.

Branchiootorenal (BOR) syndrome is characterized by pits or ear tags in front of the outer ear (preauricular pits), abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, malformations of the outer, middle and inner ear, hearing loss and kidney (renal) abnormalities.[rx]

Branchiootorenal spectrum disorders (BORSD) are a group of genetic conditions that affect various parts of the body, including the ears, kidneys, and sometimes other structures. These disorders can cause a range of symptoms and complications. In this article, we will provide simple explanations of what BORSD is, the different types, possible causes, common symptoms, diagnostic tests, available treatments, and medications.[rx]

What is Branchiootorenal Spectrum Disorder (BORSD)?

Branchiootorenal spectrum disorders, often referred to as BORSD, are a group of genetic conditions that affect the development of certain body parts. These conditions primarily impact the ears and kidneys, but they can also affect other structures in the head and neck. BORSD is a spectrum because it encompasses a range of related disorders, all of which share some common features.

Types of Branchiootorenal Spectrum Disorders

BORSD includes several different types and subtypes. Here are some of the main ones:

  1. Branchiootorenal Syndrome Type 1 (BOR1): This is one of the most common types of BORSD. It primarily affects the ears and kidneys, causing hearing problems and kidney abnormalities.
  2. Branchiootorenal Syndrome Type 2 (BOR2): Similar to BOR1, this type also involves issues with the ears and kidneys. However, the severity of symptoms can vary.
  3. Branchiootic Syndrome (BOS): BOS primarily affects the ears and may cause hearing loss. Kidney problems may be less common in this type.
  4. Melnick-Fraser Syndrome (MFS): MFS is a more complex form of BORSD that can affect various structures in the head and neck, including the ears, face, and throat.
  5. Elliott Syndrome: This is a rare subtype that involves hearing loss and kidney abnormalities. It can also affect the skin and hair.
  6. Renal-Coloboma Syndrome (RCS): RCS primarily affects the kidneys and can lead to vision problems, particularly colobomas (a type of eye abnormality).
  7. Other Unspecified Subtypes: Some individuals may have BORSD features that do not fit neatly into one of the defined subtypes.

Causes of Branchiootorenal Spectrum Disorders

BORSD is primarily caused by genetic mutations. These mutations can occur in various genes that play a role in the development of the ears, kidneys, and other related structures. The exact genetic causes can vary between individuals and may not always be identified.[rx]

BOR/BOS syndrome is caused by mutations in the EYA1(BOR1, BOS2), SIX5 (BOR2), and SIX1 (BOR3, BOS3) genes.[rx]

BOR/BOS syndrome is inherited as an autosomal dominant disorder. Dominant genetic disorders occur when one copy of a gene is abnormal and this abnormal copy results in the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.[rx]

Common Symptoms of Branchiootorenal Spectrum Disorders

Most people with BOR/BOS syndrome have some type of hearing loss. The hearing loss may be due to nerve damage (sensory), blockage of sound waves (conductive), or both. The degree of hearing loss varies from mild to profound, and can differ between the two ears. The deafness can be stable or progressive. Other abnormalities related to the ear that may be present include pits or outgrowths of cartilage (tags) in front of the outer ear; a cupped or small outer ear; and/or a narrow or upward slanted outer ear canal.[rx]

An abnormal passage from the throat to the outside surface of the neck (branchial fistula), and/or an opening on the side of the neck, or a mass that can be felt under the muscles on the side of the neck is often present.[rx]

The symptoms of BORSD can vary widely, even among individuals with the same subtype. However, here are some common symptoms associated with these disorders:

  1. Hearing Loss: Many people with BORSD experience hearing problems, which can range from mild to severe.
  2. Kidney Abnormalities: BORSD can lead to kidney issues, including structural abnormalities and impaired kidney function.
  3. Ear Abnormalities: Individuals with BORSD may have malformed or low-set ears.
  4. Branchial Fistulas: Some people with BORSD may develop abnormal openings (fistulas) in the neck that connect to the throat.
  5. Colobomas: In certain subtypes, individuals may have colobomas, which are gaps or notches in the iris or other eye structures.
  6. Facial Abnormalities: In more complex forms of BORSD, there may be facial anomalies such as a cleft lip or palate.
  7. Skin and Hair Issues: Elliott Syndrome, a rare subtype, can lead to skin and hair abnormalities.

It’s important to note that not everyone with BORSD will have all of these symptoms, and the severity of symptoms can vary widely.

Diagnostic Tests for Branchiootorenal Spectrum Disorders

The diagnosis of BOR/BOS syndrome is made when at least two of five features (branchial defects, hearing loss, preauricular pits, abnormalities of the part of the ear that projects from the head (pinna), and renal malformations) are present in an individual with two or more affected family members, or three features are present in an individual with no affected family members.[rx]

Evaluation of hearing function (audiologic assessment), and imaging (CT or computerized tomography) of the temporal bone to identify the middle and inner ear defects, should be performed. Renal abnormality is investigated by urinalysis, renal function tests, and imaging studies such as renal ultrasonography and CT.[rx]

Molecular genetic testing for mutations in the EYA1(BOR1, BOS2), SIX5 (BOR2), and SIX1 (BOR3, BOS3) genes is available to confirm a clinical diagnosis of BOR/BOS syndrome.

EYA1 mutations are be found in about 40% of people with BOR/BOS syndrome. A SIX1 mutation is estimated to be found in 4% of people with BOR/BOS syndrome and a SIX5 mutation is present in about 5% of people with BOR/BOS syndrome.[rx]

Diagnosing BORSD typically involves a combination of clinical evaluation and specialized tests. Here are some common diagnostic tests used to identify BORSD:

  1. Physical Examination: A doctor will conduct a thorough physical examination to assess for any physical abnormalities, such as ear or facial features associated with BORSD.
  2. Hearing Tests: Audiometric tests are used to assess hearing function and identify any hearing loss.
  3. Imaging Studies: Imaging techniques like ultrasound, CT scans, or MRI scans may be used to examine the structure of the kidneys and other affected areas.
  4. Genetic Testing: Genetic testing can identify specific mutations associated with BORSD and confirm the diagnosis.
  5. Kidney Function Tests: Blood and urine tests can help assess kidney function and identify any abnormalities.
  6. Eye Examination: An eye exam may be conducted to check for colobomas or other eye abnormalities in certain subtypes.

Treatments for Branchiootorenal Spectrum Disorders

The treatment approach for BORSD depends on the specific symptoms and complications a person experiences. Here are some common treatments and interventions:

  1. Hearing Aids: For individuals with hearing loss, hearing aids can help improve communication and quality of life.
  2. Speech and Language Therapy: Some people with BORSD may benefit from speech and language therapy to address speech and communication challenges.
  3. Kidney Monitoring: Individuals with kidney abnormalities may require regular monitoring by a nephrologist (kidney specialist) to manage kidney function.
  4. Surgical Interventions: In cases of branchial fistulas or other structural abnormalities, surgical procedures may be necessary to correct the issues.
  5. Vision Care: Those with colobomas or vision problems may need regular eye examinations and, in some cases, corrective lenses or surgery.
  6. Genetic Counseling: Families affected by BORSD may benefit from genetic counseling to understand the genetic implications and risks for future generations.

Patients with BOR/BOS syndrome may benefit from hearing aids. When structural defects of the ear are present, surgery may be beneficial.

Branchial cleft deformities have the potential to become easily infected and may require surgical treatment such as excision of the branchial cleft cyst or fistulae. Antibiotics can be given if the cyst or sinuses are infected. Also, a physician specializing in kidney problems (nephrologist) should closely monitor any renal impairment. Surgical repair may be undertaken for correctable defects. Severe kidney problems may warrant dialysis or kidney transplantation.[rx]

Semiannual examination for hearing impairment is recommended to assess stability of hearing loss. Semiannual examination for renal function is recommended to prevent progression of worsening of the kidneys.[rx]

Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive.[rx]

Medications for Branchiootorenal Spectrum Disorders

There are no specific medications that can cure BORSD. However, some medications may be used to manage certain symptoms or complications:

  1. Pain Relief: Over-the-counter or prescription pain relievers may be used to manage pain after surgical procedures or to alleviate discomfort associated with certain symptoms.
  2. Antibiotics: Antibiotics may be prescribed to treat or prevent infections, especially if there are surgical wounds or recurring ear infections.
  3. Kidney Medications: Depending on the nature of kidney abnormalities, medications may be prescribed to manage blood pressure or kidney function.

In Conclusion

Branchiootorenal spectrum disorders are genetic conditions that affect various parts of the body, primarily the ears and kidneys. These disorders can lead to hearing loss, kidney abnormalities, and other symptoms that can vary in severity. Diagnosing BORSD involves clinical evaluation and specialized tests, including genetic testing. While there is no cure for BORSD, treatments and interventions are available to manage symptoms and improve the quality of life for affected individuals. Genetic counseling can also be valuable for families dealing with these conditions. If you or a loved one suspect BORSD, it’s essential to consult with a healthcare professional for a proper evaluation and management plan tailored to your specific needs.

 

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.

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