Branchio-Oculo-Facial Syndrome

Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder with defects of the head and neck that are apparent at birth (congenital) and usually diagnosed in childhood. As of 2018, fewer than 100 cases have been reported in the medical literature, although additional patients are probably followed world-wide.[rx]

Branchio-Oculo-Facial Syndrome (BOFS) is a rare genetic disorder that affects various parts of the body, including the branchial arches, eyes, and face. In this article, we will break down this complex condition into simple terms to help you better understand its types, causes, symptoms, diagnostic tests, treatments, and drugs used for management.

Types of BOFS:

Branchio-Oculo-Facial Syndrome has two main types:

1. BOFS Type 1: Characterized by branchial arch anomalies, eye abnormalities, and facial features.
2. BOFS Type 2: Features branchial arch anomalies, hearing loss, and additional facial abnormalities.

Causes of BOFS:

BOFS is primarily caused by mutations in the TFAP2A gene. These mutations can be inherited from parents or occur spontaneously during development.

BOFS is caused by mutations in the TFAP2A gene and follows an autosomal dominant pattern of inheritance.[rx]

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.[rx]

In 50-60% of individuals with BOFS, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the egg or sperm cell. In such situations, the disorder is not inherited from the parents. In some families, the parent who has very mild features is diagnosed after the child is recognized to have BOFS.[rx]

There is no correlation between the type of gene mutation and the appearance of the person. However, patients who have a chromosome deletion involving TFAP2A have a slightly different appearance.[rx]

Symptoms of BOFS:

BOFS can manifest with various symptoms, which may vary in severity. Here are 20 common symptoms:

1. Branchial arch anomalies (extra skin folds or pits around the neck).
2. Eye abnormalities (strabismus, cataracts, or small eyes).
3. Facial features (small chin, flat nasal bridge, or ear abnormalities).
4. Hearing loss.
5. Cleft lip and palate.
6. Webbed neck.
7. Kidney abnormalities.
8. Heart defects.
9. Intellectual disability.
10. Speech difficulties.
11. Dental problems.
12. Abnormalities in the fingers or toes.
13. Growth delays.
14. Abnormalities in the throat.
15. Respiratory issues.
16. Feeding difficulties.
17. Skin abnormalities.
18. Genital abnormalities.
19. Vision problems.
20. Behavioral challenges.

Diagnostic Tests for BOFS:

The diagnostic criteria have been based on the hallmark features that include a branchial skin defect, ocular anomaly, and facial anomalies (B, O, F). If all three of the hallmark abnormalities are present, it would be characterized as branchio-oculo-facial syndrome. If two of the three hallmark defects are present, plus thymus tissue found in an abnormal location (ectopic thymus) or if a parent or child is affected, it would be characterized as branchio-oculo-facial syndrome.[rx]

TFAP2A is currently the only gene associated with BOFS. Molecular genetic testing for mutations in the TFAP2A gene is available to confirm the diagnosis.[rx]

To diagnose BOFS, doctors may use several tests, including:

1. Genetic testing to identify TFAP2A gene mutations.
2. Physical examination to assess facial and neck features.
3. Imaging tests like CT scans and MRI to evaluate organ abnormalities.
4. Audiometry to measure hearing loss.
5. Echocardiography to check for heart defects.
6. Speech and developmental assessments.
7. Blood tests for associated conditions.
8. Eye examinations by an ophthalmologist.
9. Dental evaluations.
10. X-rays for skeletal abnormalities.
11. Urinalysis to detect kidney issues.
12. Skin biopsies for dermatological problems.
13. Endoscopy for throat abnormalities.
14. Sleep studies for breathing problems during sleep.
15. Electroencephalography (EEG) for seizures.
16. Hormonal assessments for growth issues.
17. Ultrasound for abdominal abnormalities.
18. Chromosome analysis to rule out other genetic disorders.
19. Vestibular testing to assess balance and coordination.
20. Psychological evaluations for behavioral concerns.

Treatment Options for BOFS:

The care and management of people with BOFS is aimed at the specific signs and symptoms, and should be carried out by a multi-specialty team who are skilled in craniofacial disorders. A medical geneticist usually makes the clinical diagnosis, which is confirmed with molecular testing. Reconstructive surgery is needed to repair facial deformities and obstructed nasal ducts. Importantly, the skin defects should not be treated with simple cauterization. Strabismus (“crossed eyes”) may be corrected by surgery.[rx]

In addition, people with BOFS should be managed by an ophthalmologist, otolaryngologist, dentist, and speech therapist. Depending on the person’s issues, there may be a need for a neuropsychologic or developmental evaluation and mental health support.[rx]

Genetic counseling is recommended for the patients and their families for reproductive health.

BOFS treatment aims to manage the specific symptoms and complications associated with the disorder. Here are 30 treatment options:

1. Surgical correction for cleft lip and palate.
2. Hearing aids or cochlear implants for hearing loss.
3. Speech therapy to improve communication skills.
4. Orthodontic care for dental issues.
5. Cardiac surgery if heart defects are present.
6. Kidney monitoring and treatment as needed.
7. Eye surgeries for vision problems.
8. Physical and occupational therapy for developmental delays.
9. Behavioral therapy for behavioral challenges.
10. Genetic counseling for families.
11. Nutritional support for feeding difficulties.
12. Skin treatments for dermatological issues.
13. Endoscopic procedures for throat abnormalities.
14. Medications for seizures if necessary.
15. Growth hormone therapy for growth delays.
16. Bone and joint treatments for skeletal abnormalities.
17. Hormone replacement therapy for hormonal imbalances.
18. Gastrointestinal interventions for digestive problems.
19. Respiratory therapy for breathing difficulties.
20. Psychiatric care for associated mental health concerns.
21. Urological treatments for genitourinary issues.
22. Ophthalmic interventions for eye conditions.
23. Craniofacial surgery for facial abnormalities.
24. Dental implants or prosthetics.
25. Assistive devices for mobility.
26. Pulmonary support for respiratory issues.
27. Sleep interventions for sleep disorders.
28. Regular check-ups with various specialists.
29. Pain management for associated discomfort.
30. Supportive care and therapies tailored to individual needs.

Drugs Used in BOFS Treatment:

While there are no specific drugs for BOFS itself, medications may be prescribed to manage related symptoms and complications. Here are 20 common drugs used:

1. Antibiotics for infections.
2. Pain relievers for discomfort.
3. Anticonvulsants for seizures.
4. Hormone replacement therapy.
5. Growth hormone for growth delays.
6. Gastrointestinal medications for digestive problems.
7. Cardiac medications for heart issues.
8. Anti-inflammatory drugs for arthritis.
9. Psychotropic medications for behavioral issues.
10. Hearing aids for hearing loss.
11. Eye drops for vision problems.
12. Topical treatments for skin issues.
13. Respiratory medications for breathing difficulties.
14. Dental pain relief medications.
15. Bone-strengthening drugs.
16. Urological medications for genitourinary issues.
17. Antacid medications for acid reflux.
18. Sleep aids for sleep disorders.
19. Allergy medications for environmental sensitivities.
20. Steroids for inflammation.

In conclusion, Branchio-Oculo-Facial Syndrome is a complex genetic disorder that can affect various aspects of a person’s health. Understanding its types, causes, symptoms, diagnostic tests, treatment options, and drugs can help individuals and their families navigate the challenges associated with this condition. Early diagnosis and a multidisciplinary approach to care are essential for managing BOFS and improving the quality of life for affected individuals. If you suspect BOFS or have a family history of the condition, consult with a healthcare professional for a thorough evaluation and appropriate guidance.

 

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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