Summary about Disease
Branchio-oto-renal (BOR) syndrome is a genetic disorder characterized by malformations of the branchial arches (structures in the developing embryo that form parts of the head and neck), ears (oto), and kidneys (renal). The severity and combination of these features vary widely among affected individuals. It can cause hearing loss, kidney problems, and cysts or fistulas in the neck.
Symptoms
Symptoms can include:
Hearing loss (ranging from mild to profound; can be conductive, sensorineural, or mixed)
Ear abnormalities (e.g., pits, tags, malformed outer ears)
Branchial cleft cysts or fistulas (openings in the neck)
Kidney malformations (e.g., absent kidney, small kidneys, cysts, renal failure)
Preauricular pits (small indentations in front of the ears)
Causes
BOR syndrome is caused by mutations in genes involved in early development. The most commonly affected genes are EYA1, *SIX1*, and *SIX5*. It is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is sufficient to cause the disorder. However, spontaneous mutations can also occur, meaning a person with BOR syndrome may be the first in their family to have the condition.
Medicine Used
4. Medicine used There is no specific medicine to cure BOR syndrome. Treatment focuses on managing the specific symptoms present in each individual. Medications may include:
Antibiotics for infections related to branchial cleft cysts or fistulas.
Medications to manage kidney disease (e.g., diuretics, blood pressure medications).
Hearing aids or cochlear implants for hearing loss.
Is Communicable
No, BOR syndrome is not communicable. It is a genetic disorder, not an infectious disease.
Precautions
There are no specific precautions to prevent BOR syndrome, as it is a genetic condition. Genetic counseling is recommended for individuals with a family history of BOR syndrome who are planning to have children. Early diagnosis and management of symptoms can improve the quality of life for affected individuals.
How long does an outbreak last?
BOR syndrome is not an infectious disease and does not involve outbreaks. It is a congenital condition present from birth.
How is it diagnosed?
Diagnosis is based on a combination of:
Clinical evaluation (physical examination to identify characteristic features).
Hearing tests (audiometry).
Kidney imaging (e.g., ultrasound, CT scan, MRI).
Genetic testing (to identify mutations in the EYA1, *SIX1*, or *SIX5* genes).
Timeline of Symptoms
9. Timeline of symptoms Symptoms are typically present from birth or early childhood. Some kidney problems might not be evident until later in life. Hearing loss may be detected at birth or later during routine hearing screenings. Branchial cleft cysts or fistulas are usually noticed in infancy or early childhood. The timeline and severity of symptoms vary considerably between individuals.
Important Considerations
Individuals with BOR syndrome should undergo regular hearing and kidney function monitoring.
A multidisciplinary team of specialists (e.g., otolaryngologist, nephrologist, audiologist, geneticist) is often involved in the care of individuals with BOR syndrome.
Genetic counseling is important for families affected by BOR syndrome to understand the inheritance pattern and recurrence risk.
The range of severity can vary greatly, even within the same family.