Branchio-oculo-facial syndrome (often shortened to BOFS) is a rare genetic condition that affects how the face, neck, eyes, and sometimes ears and kidneys form before birth. In this condition, some of the early building blocks of the face and neck (called branchial arches) do not grow in the usual way. Because of this, a baby can be born with thin or red skin patches on the neck or near the ears, eye problems that can affect vision, and special facial features such as cleft lip, cleft palate, or a “pseudocleft” that looks like a repaired cleft lip.
Branchio-oculo-facial syndrome (often shortened to BOFS) is a rare genetic condition that starts before birth and mainly affects the neck (branchial area), eyes, ears, and face. The most typical signs are skin defects on the neck or near the ears, eye problems (like small eyes or missing parts of the eye), and facial differences (like cleft lip or a “pseudocleft” look). BOFS happens most often because of a harmful change (a pathogenic variant) in a gene called TFAP2A, which helps control how the face and neck form in the embryo. When TFAP2A does not work normally, early development of these structures can be disrupted, which can lead to BOFS features.
The phrase “Hing type” is not a standard medical subtype used in most modern guides. It comes from a 1992 case report by A. V. Hing describing a lethal (very severe) malformation complex that resembled BOFS, with extra major problems such as serious brain and heart malformations; the authors suggested it might even be a different syndrome. Some rare-disease lists label this idea as “Hing type,” meaning a BOFS-like but extremely severe/lethal presentation.
BOFS is usually caused by a change (mutation) in a gene called TFAP2A. A gene is like an instruction book inside the body. The TFAP2A gene tells the body how to make a protein called AP-2α, which helps control other genes that guide early development of the face, neck, and some other organs. When this gene does not work properly, the face, neck, eyes, ears, and sometimes kidneys may not form normally.
BOFS is inherited in an autosomal dominant way. This means that only one changed copy of the gene is enough to cause the condition. Sometimes the gene change comes from an affected parent. In many patients, the gene change happens for the first time in the child (a new or de novo mutation), and the parents do not have BOFS. Common features can include: skin defects on the neck, small or missing eyes, eye gaps called colobomas, blocked tear ducts, cleft lip or cleft palate, wide-set eyes, a broad nose, unusual ears, and sometimes kidney problems or early greying of the hair. The exact features are different from person to person, even inside the same family.
Right now there is no single cure that removes BOFS. Treatment is supportive and symptom-based, which means doctors focus on each problem (eyes, ears, lip, palate, skin, speech, kidney, etc.) and try to improve function, appearance, comfort, and quality of life. Care is best given by a multidisciplinary craniofacial team including genetics, ENT, ophthalmology (eye specialist), plastic surgery, dentistry, speech therapy, and other experts.
Another names
Doctors and genetics references may use different names for the same condition, so knowing the “other names” helps when you search or read reports.
BOFS (short form)
BOF syndrome (listed as a synonym in GeneReviews)
Branchio-oculo-facial syndrome (full name)
Hemangiomatous branchial clefts–lip pseudocleft syndrome (a name sometimes used in summaries)
Types
There are no universally accepted “official types” of BOFS, but clinicians often describe patterns based on which body area is most affected and how severe it is.
Classic BOFS (typical pattern): Skin defects near the neck/ears plus eye findings plus facial findings (for example cleft lip/pseudocleft).
Mild BOFS: Very small or subtle neck skin defects and mild facial differences; the condition can be missed in early life because findings may look “small.”
Severe BOFS: Large “weeping” skin erosions, major eye malformations (like anophthalmia), and more complex craniofacial differences.
Ocular-predominant BOFS: Eye problems are the main issue and can be more striking than the neck skin changes in some families.
Ear/hearing-predominant BOFS: Hearing loss and inner-ear/temporal bone differences may be a major feature in some patients.
“Hing type” (BOFS-like lethal presentation): A reported BOFS-resembling but extremely severe/lethal malformation complex; it may represent a separate syndrome rather than typical BOFS.
Causes
BOFS is mainly caused by genetic changes in TFAP2A and is usually autosomal dominant (a person can be affected with one changed copy of the gene). Many cases are new (de novo), meaning the change starts in the child and is not found in either parent.
Pathogenic variant in TFAP2A (main cause): This is the most proven cause of BOFS in modern genetics.
Autosomal dominant inheritance: If a parent has BOFS, each child has about a 50% chance to inherit the TFAP2A variant.
De novo (new) TFAP2A variant: Many people with BOFS are the first in the family because the gene change started in them.
Missense variant (one “letter” change that changes one amino acid): Many BOFS variants are missense changes that can disturb how the TFAP2A protein binds DNA.
Variants in key TFAP2A coding regions (often exons 4–5): Research has reported that many BOFS mutations cluster in specific TFAP2A regions important for function.
Frameshift variant (DNA insertion/deletion that shifts the reading frame): Some BOFS cases come from changes that disrupt the protein by shifting how it is read.
Splice-site variant: Some variants affect how the gene is “cut and joined” (splicing), which can lead to an abnormal protein.
Complex TFAP2A allele: Rarely, more complicated changes in TFAP2A have been reported and linked to BOFS and inner ear malformation.
Reduced control of early development genes: TFAP2A is a transcription factor, so when it is abnormal, it can mis-control many developmental genes.
Abnormal development of branchial arches: “Branchio” relates to branchial arches; when they develop abnormally, neck/ear-area skin defects and sinuses can form.
Abnormal neural crest–related development (developmental pathway issue): TFAP2A is important in early head/face development pathways; disruption can affect multiple structures at once.
Abnormal eye formation early in pregnancy: TFAP2A disruption can lead to major eye structure problems such as microphthalmia or coloboma.
Abnormal tear-duct development (nasolacrimal duct): TFAP2A variants can be linked with tear-duct narrowing or blockage, causing constant tearing.
Abnormal ear/temporal bone development: Inner-ear and petrous/temporal bone changes can occur and lead to hearing loss.
Incomplete penetrance (gene present but signs vary): Some people with a TFAP2A variant may have very mild signs, which can make BOFS seem to “skip” in a family.
Variable expressivity (same gene, different severity): Even in the same family, one person may have mild features and another may have severe features.
Predominant ocular phenotype variants/families: Some reported families show that the main visible problem can be the eyes, showing how BOFS can “present” differently.
Predominant ear/hearing phenotype cases: Some reports show major hearing/inner ear differences, showing another pattern of BOFS expression.
Severe BOFS-like lethal malformation complex (“Hing” report): A published case had BOFS-like findings plus major brain/heart malformations and death, suggesting an extreme end or a different condition.
Family planning risk when a parent is affected: The “cause” in future children is inheritance of the known TFAP2A variant (this is why genetic counseling is important).
Symptoms
People with BOFS do not all look the same. Some signs are mild, and some are severe. The most common signs involve the neck skin, eyes, ears/hearing, and face/mouth.
Neck or ear-area skin defects (branchial skin defects): These can look like thin skin, a hair patch, red “hemangioma-like” skin, or larger open and “weeping” areas.
Branchial sinuses or tracts: Some people have a small opening or tract under the skin in the branchial area, and it may leak fluid (“weep”).
Microphthalmia (small eye): One or both eyes can be smaller than usual, which can affect vision.
Anophthalmia (missing eye): In severe cases, an eye may be absent, which causes major vision loss on that side.
Coloboma (missing piece of eye tissue): A “gap” in eye structures can occur and may affect vision depending on location.
Cataract: The lens can become cloudy, which can reduce vision and may need treatment.
Blocked or narrow tear duct (nasolacrimal duct stenosis/atresia): This can cause constant watery eyes and repeated eye irritation.
Ptosis (droopy eyelid): The upper eyelid may droop and can block vision if severe.
Strabismus (eye misalignment): One eye may turn in or out, which can cause vision problems if untreated.
Cleft lip: The upper lip may have a split; it may be one-sided or both-sided.
“Pseudocleft” look (prominent philtral pillars / lesser-form cleft lip): The lip can look like a repaired cleft even if it was never repaired.
Cleft palate (with cleft lip): Some people have an opening in the roof of the mouth along with cleft lip, which can affect feeding and speech.
Upper lip pits: Small pits or depressions can be present on the upper lip.
Ear shape differences (prominent or malformed pinnae): Ears may be low-set, rotated, or shaped differently.
Hearing loss (conductive, sensorineural, or mixed): Hearing loss is common and may relate to inner-ear or temporal bone differences.
Diagnostic tests
BOFS is diagnosed by a careful clinical exam plus genetic testing for TFAP2A. There are no global “official” guidelines, but published diagnostic criteria and modern gene testing are widely used.
Physical exam
Full skin exam of the neck and around the ears: The doctor looks for branchial skin defects, open erosions, hair patches, and possible sinus openings.
Craniofacial exam (face shape and spacing): The doctor checks for features like a broad nasal tip, wide-spaced eyes (hypertelorism/telecanthus), and the typical BOFS facial pattern.
Mouth and palate exam: The doctor checks for cleft lip, pseudocleft pattern, cleft palate (when present), and upper lip pits, because these are key BOFS clues.
Ear exam and basic hearing screen at bedside: The doctor inspects ear shape/position and looks for signs that suggest hearing loss needing formal testing.
Manual tests
Cranial nerve VII (facial nerve) function test: The clinician checks facial movement (for example uneven crying face or weakness) because BOFS can involve lower facial weakness.
Bedside eye alignment tests (cover–uncover test): This checks for strabismus, which is a known BOFS eye issue.
Fluorescein dye disappearance (tear-duct patency) test: Dye is placed in the eye to see if tears drain normally; slow drainage supports nasolacrimal duct blockage.
Tuning fork hearing tests (Weber and Rinne): These simple tests can suggest conductive vs sensorineural hearing loss before advanced testing.
Lab and pathological tests
TFAP2A gene sequencing: This is the main lab test to confirm BOFS by finding a heterozygous pathogenic variant in TFAP2A.
TFAP2A deletion/duplication analysis (copy-number testing): If sequencing is negative but BOFS looks likely, labs may check for missing/extra gene segments.
Chromosomal microarray (to help rule out other syndromes): This does not “diagnose BOFS,” but it can find other chromosome changes when the diagnosis is uncertain.
Histopathology of excised branchial lesion tissue (when surgery is done): Tissue may be checked under a microscope, especially because some lesions can involve thymic tissue and should be handled carefully.
Electrodiagnostic tests
Auditory Brainstem Response (ABR): This measures hearing pathway responses and is useful in infants and children to confirm and grade hearing loss.
Otoacoustic emissions (OAE): This is another hearing test often used in newborns/children to screen inner-ear function.
Visual evoked potentials (VEP) (selected cases): This can help evaluate how the brain responds to vision signals when structural eye problems exist.
Electroretinography (ERG) (selected cases): This measures retinal function and may help when there are complex eye anomalies and unclear visual potential.
Imaging tests
CT or MRI of the temporal bone/inner ear: Imaging can show cochlear or vestibular abnormalities that explain hearing loss.
Renal (kidney) ultrasound: Some people with BOFS can have renal malformations, so ultrasound helps look for structural kidney issues.
Echocardiogram (heart ultrasound): BOFS care guides mention congenital heart defects among possible associated findings, so echo may be done when clinically indicated.
Eye imaging (ocular ultrasound / detailed ophthalmic imaging): When eye structures are very small or abnormal, imaging supports diagnosis and treatment planning.
Non-pharmacological treatments (therapies and others)
Below are examples of 20 non-drug treatments that doctors may use to support a person with branchio-oculo-facial syndrome. Not every person needs all of them. The care plan is individualized.
Multidisciplinary craniofacial team care
A person with BOFS usually needs help from many specialists: geneticist, pediatrician, ENT doctor, eye doctor, plastic surgeon, dentist, speech therapist, and psychologist. A craniofacial team brings these specialists together so they can plan treatment in an organized way. This team approach helps to time surgeries, plan therapies, follow growth, and support the family emotionally and socially.Regular ophthalmology (eye) follow-up
Because BOFS can cause small eyes, missing eyes, eye gaps, cataracts, or blocked tear ducts, frequent eye checks are very important. The eye doctor monitors vision, eye pressure, and the eye surface. Early detection of problems such as amblyopia (“lazy eye”) or glaucoma gives a better chance to protect vision with glasses, patching, or surgery when needed.Low-vision aids and visual rehabilitation
If vision cannot be fully corrected, low-vision aids such as magnifiers, special lighting, large-print materials, and electronic readers can help. Vision therapists can teach the child how to use remaining vision more effectively. These tools make reading, schoolwork, and daily activities easier and can greatly improve confidence and independence.Protective eyewear and eye lubrication routine
People with abnormal eye shape, dry eyes, or poor eyelid closure may need protective glasses and a daily lubrication routine (artificial tears and ointment prescribed by the eye doctor). This reduces dryness, scratches, and infections on the eye surface. Simple habits like blinking breaks, avoiding smoke, and wearing sunglasses outdoors also protect the eyes.Hearing assessment and hearing aids
BOFS can include outer or middle ear malformations and hearing loss. An audiologist checks hearing regularly and may fit hearing aids or bone-anchored hearing devices. Better hearing supports speech development, learning, and social interaction, especially in early childhood when the brain is still wiring language pathways.Speech and language therapy
Cleft lip or palate, hearing loss, and facial muscle weakness can make speech less clear. A speech-language therapist teaches exercises to improve lip and tongue control, resonance, and articulation. Therapy can begin very early and continue over many years. Good communication improves school performance and social relationships.Feeding and swallowing support
Babies with cleft lip or palate may have trouble sucking and swallowing. Special bottles, nipples, and feeding positions are used to reduce choking and help the baby gain weight. A speech or feeding therapist can teach safe swallowing strategies. This support protects the lungs from aspiration and helps the child grow well before and after surgery.Dental and orthodontic care
Dental and jaw problems are common when lip and palate are affected. Regular dental care prevents cavities and gum disease. Orthodontic care (braces, expanders) may be planned around growth and surgery stages. Good oral health supports speech, chewing, and facial appearance, all of which can affect self-esteem.Skin care and scar management
BOFS can cause thin, red, or erosive skin patches on the neck or near the ears. Gentle cleansing, non-irritating moisturizers, and sun protection can protect these areas. After surgery, silicone gels, pressure garments, or massage may help scars heal smoother. Dermatologists guide safe treatments because aggressive cauterization of lesions is discouraged in BOFS.Physical therapy and posture training
Some children with BOFS may have mild muscle weakness or compensation patterns due to eye or facial differences. Physical therapy can improve posture, neck strength, and overall fitness. This helps balance, coordination, and participation in sports, which are important for social life and mental health.Occupational therapy for daily skills
Occupational therapists help children adapt daily activities such as dressing, writing, or using devices if vision or facial movement is limited. They may suggest adaptive tools and classroom modifications. Early occupational therapy support can make school easier and reduce frustration for both child and family.Psychological counseling and family support
Visible facial differences and multiple medical visits can be stressful. Psychologists or counselors support the child and family in coping with anxiety, bullying, or low self-esteem. Family therapy or support groups connect people with similar experiences, which often reduces feelings of isolation.Educational support and special needs services
Some people with BOFS may have learning or developmental difficulties. Early developmental assessment helps identify any delays. Teachers, school psychologists, and special educators can create an Individualized Education Plan (IEP) with extra support, seating adjustments, and assistive technology to help the student succeed.Kidney monitoring and nephrology follow-up
In some patients, BOFS is linked to kidney malformations or cysts. Regular urine tests, blood tests, and kidney ultrasound can detect problems early. A kidney specialist (nephrologist) can monitor blood pressure and kidney function and advise on lifestyle measures to protect the kidneys long term.Sun protection and wound protection
Fragile neck skin, scars, and eye surfaces are sensitive to sunlight. Broad-brimmed hats, clothing that covers the neck, and sunscreen help prevent burns and long-term skin damage. Protecting healing wounds from trauma, scratching, or infection also improves cosmetic results after surgery.Genetic counseling for the family
A genetic counselor explains how BOFS is inherited, the 50% chance of passing it to children, and the possibilities of prenatal or pre-implantation genetic testing once the TFAP2A variant is known in the family. This helps parents and older patients make informed choices about family planning.Pre-surgical anesthesia planning
Because of facial differences, airway management during anesthesia can be more difficult. Anesthesia teams experienced with craniofacial conditions plan intubation carefully and may use special equipment. Good planning lowers the risk during operations and improves safety.Social work and practical support
Social workers help families find financial aid, transportation support, school resources, and disability benefits when needed. They can also coordinate between hospital, school, and community services so that the child receives consistent support.Lifestyle advice for general health
Regular exercise, enough sleep, good hand hygiene, and avoiding tobacco smoke exposure support general health and immune function. Healthy habits lower the risk of infections around surgeries, ears, and eyes and help the child feel stronger overall.Patient and parent education
Education about BOFS, warning signs, wound care, eye protection, and follow-up schedules gives parents and older patients confidence. When families understand the condition, they can notice problems early, attend appointments on time, and work as partners with the care team.
Drug treatments
There are no drugs that cure branchio-oculo-facial syndrome itself. Medicines are used to treat specific problems such as infections, dry eyes, pain, or allergies. Below are examples of drug groups that doctors may use. These are general descriptions; exact medicine and dose must always be chosen by a doctor.
Lubricating eye drops (artificial tears)
Artificial tears are simple salt solutions or gels used to keep the eye surface moist when eyelids do not close fully or tear production is poor. They are usually put in the eye several times a day, as advised by the eye doctor. Their main purpose is to protect the cornea from drying, scratching, and infection, and to reduce burning and irritation. Side effects are usually mild, such as brief stinging or blurred vision.Prescription anti-inflammatory eye drops (e.g., cyclosporine or lifitegrast)
In some people with severe dry eye or eye surface inflammation, doctors may prescribe cyclosporine (e.g., RESTASIS, CEQUA) or lifitegrast (Xiidra). These drops reduce immune-related inflammation on the eye surface and can improve natural tear production over time. They are usually used twice a day, and the main side effects are temporary burning, irritation, or strange taste in the mouth.Topical antibiotic eye drops or ointments
If the eye surface, eyelids, or tear ducts become infected, ophthalmologists may use antibiotic drops or ointments. Fluoroquinolone eye drops such as ofloxacin (OCUFLOX) are FDA-approved for bacterial eye infections and are applied several times a day for a limited period. These drugs kill bacteria and prevent spread of infection but can cause local irritation or, rarely, allergy.Topical antibiotic ear drops
When BOFS-related ear malformations lead to chronic ear infections or ear discharge, doctors may prescribe antibiotic ear drops, such as ofloxacin otic solution (FLOXIN Otic), which is FDA-approved for several types of ear infections. The medicine is placed into the ear canal for a set number of days. It works by killing bacteria in the ear fluid. Mild ear discomfort or itching may occur; serious side effects are uncommon when used correctly.Systemic antibiotics (oral or IV)
Severe skin infections on the neck lesions, deep ear infections, or post-surgical infections may need oral or intravenous antibiotics. The choice (for example, penicillins, cephalosporins, or macrolides) depends on the type of bacteria and local guidelines. The aim is to control infection, prevent spread, and protect healing tissues. Side effects can include stomach upset, diarrhea, rashes, or, rarely, allergic reactions.Pain relievers and fever reducers (paracetamol, ibuprofen)
After surgeries (like cleft lip repair) or during infections, simple pain relievers are often used. Paracetamol (acetaminophen) and ibuprofen are common choices in children. They reduce pain and fever and help the child rest and eat better. Doctors carefully adjust the dose according to age and weight. Overdose can damage the liver or kidneys, so these medicines must be used exactly as prescribed.Topical skin antibiotics and antiseptics
For mild infected skin erosions on the neck, short courses of topical antibiotic ointments or antiseptic solutions may be used. They reduce bacterial load on the wound, control smell and discharge, and support healing. Over-use is avoided to reduce the risk of resistance and skin irritation.Topical corticosteroid creams (short, careful use)
In some cases, if the skin around lesions is very inflamed or itchy, a doctor may prescribe a mild steroid cream for a short time. This reduces redness and itching and makes dressings more comfortable. Long-term or unsupervised use is avoided because it can thin the skin and increase infection risk.Nasal saline sprays and irrigations
Children with cleft palate or nasal deformities may have crusting and dryness inside the nose. Saline sprays are simple saltwater solutions that moisturize the nasal lining and loosen crusts. They are safe for long-term use and reduce the need for stronger nasal medicines.Allergy medicines (antihistamines)
If the child has allergic rhinitis (sneezing, itchy nose, watery eyes), non-sedating antihistamines may be given. They block histamine, the chemical that causes allergy symptoms. Control of allergy can indirectly protect the eye and skin surfaces by reducing rubbing and scratching. Common side effects are mild drowsiness or dry mouth.Nasal corticosteroid sprays for chronic nasal inflammation
In older children or adults with persistent nasal blockage from allergy or structural issues, nasal steroid sprays may be prescribed. These sprays reduce swelling inside the nose and improve breathing. Because they act mostly locally, systemic side effects are low when used as directed, but nosebleeds or throat irritation can occur.Dental fluoride products (varnish, gel, or rinse)
Due to tooth anomalies and possible difficulty in cleaning, dentists may use fluoride varnishes or gels to strengthen teeth. Fluoride makes enamel more resistant to acid attack, lowering the risk of cavities. Products are applied in small controlled amounts by dental professionals to avoid swallowing too much fluoride.
The above list gives examples of medicines. An individual person with BOFS may need only a few of them or none at all. Treatment is always customized, and many patients are mainly helped by surgeries and non-drug therapies.
Dietary molecular supplements
There is no special “BOFS diet”, and high-dose supplements are not proven to treat the syndrome itself. However, some nutrients can support general health, wound healing, and eye and skin health when used in normal, safe doses decided by a doctor or dietitian. Examples:
Omega-3 fatty acids
Omega-3 fats (from fish oil or algae oil) may support eye surface health, reduce dryness, and help overall heart and brain function. They may slightly reduce inflammation in the body. A doctor or dietitian can advise on a safe dose, especially in children, and watch for side effects such as stomach upset or a fishy after-taste.Vitamin A within safe limits
Vitamin A is important for the retina (seeing part of the eye), skin, and immune system. It should mainly come from food (eggs, milk, orange and green vegetables). High-dose vitamin A supplements can be toxic, especially in children and pregnant women, so they should only be used if a blood test shows deficiency and a doctor prescribes a specific dose.Vitamin D and calcium
Vitamin D helps the body absorb calcium and build strong bones and teeth, which is useful when there are cleft surgeries and dental problems. Many children have low vitamin D if they get little sunlight or have dark skin. A blood test can guide if a supplement is needed. Too much vitamin D can damage kidneys, so medical guidance is essential.Vitamin B12 and folate
These vitamins support red blood cell production and nerve health. If blood tests show low levels (for example due to poor intake), supplements may be recommended. Correcting deficiencies can reduce tiredness and support healing after surgery. Excessive, unsupervised use offers no extra benefit and may hide other medical problems.Vitamin C
Vitamin C is important for collagen formation in skin, gums, and wound healing. It also helps the body absorb iron. Most people can get enough from fruits and vegetables such as oranges, guava, or bell peppers. Supplements may be used briefly if the diet is poor, but high doses can cause stomach upset and kidney stones in some people.Zinc
Zinc helps immune function and wound repair. If zinc deficiency is proven, a small supplement may be given for a short period. Long-term high doses can cause copper deficiency and anemia, so it should not be used on its own without medical supervision.Protein supplements (e.g., milk-based or plant-based powders)
Children with feeding difficulty after cleft surgeries may not get enough protein from food. A dietitian may suggest protein drinks or powders to add to soft foods. Adequate protein helps build muscle, repair tissues, and maintain a healthy immune system.Lutein and zeaxanthin (eye-related carotenoids)
These pigments are found in green leafy vegetables and may help protect the retina from light damage. In some cases of long-term eye disease, a doctor may suggest supplements that include these nutrients. They are not a cure but can support general eye nutrition.Probiotic preparations
Probiotics are “good bacteria” used to support gut health, especially when antibiotics are used often. They may reduce antibiotic-associated diarrhea in some patients. Because the evidence is mixed and products vary in quality, it is best to use them only if a clinician recommends a specific brand and dose.Balanced multivitamin (age-appropriate, low dose)
When the child is a picky eater or has many surgeries, an age-appropriate multivitamin may be used for a limited time. It covers small gaps in diet but should not replace real food. High-dose “mega-vitamin” products are not recommended and may even be harmful.
All supplements should be checked with the treating team to avoid interactions with medicines or surgery plans.
Immune-booster, regenerative, and stem-cell drugs
For branchio-oculo-facial syndrome, there are currently no approved regenerative or stem-cell drugs that fix the underlying TFAP2A gene problem or “regrow” normal facial structures. Research in gene therapy and craniofacial development is ongoing in general, but not yet available as standard care for BOFS.
Doctors therefore focus on:
Keeping vaccinations up to date to prevent infections.
Treating infections quickly with appropriate antibiotics.
Supporting nutrition and general health so the immune system works well.
Any advertisement that promises to “cure” BOFS with stem cells, miracle injections, or immune boosters should be viewed very carefully and discussed with qualified specialists, because such claims are usually not supported by strong evidence and may be unsafe or unethical.
Surgeries
Surgery is often the main medical treatment for BOFS, because many problems are structural. Five important groups of operations include:
Cleft lip repair
Cleft lip surgery is usually done in infancy. The surgeon closes the split in the upper lip and reshapes the muscles and skin to create a more normal lip shape. This improves feeding, facial appearance, and later speech development.Cleft palate repair
Cleft palate surgery closes the opening in the roof of the mouth. This helps separate the nose from the mouth, improves swallowing, and reduces leakage of food into the nose. It also supports clearer speech and reduces the risk of ear infections, because the palate muscles help open the ear tube.Excision and reconstruction of neck/branchial skin defects
Neck skin patches that are very thin, red, or ulcerated may sometimes be removed and covered with healthier skin during surgery. Surgeons plan carefully to avoid damaging nearby structures and to give a strong, flexible scar that moves well with the neck. In some cases, lesions shrink with time and do not need surgery.Eye surgeries (for example, strabismus or cataract surgery)
If the eyes are misaligned (strabismus), muscle surgery may straighten them and help the brain use both eyes together. If a cataract blocks vision, lens removal and sometimes lens implantation may be needed. These surgeries aim to protect or improve vision and reduce double vision.Ear surgeries and hearing procedures
Some children may need procedures such as insertion of ventilation tubes to treat chronic middle ear fluid, or later reconstructive surgery to improve the shape of the outer ear. These operations aim to improve hearing, reduce infections, and support better wearing of hearing aids or glasses.
Prevention of complications
BOFS itself cannot usually be prevented because it is genetic, but several steps can reduce complications:
Early diagnosis and referral to a craniofacial team.
Regular eye exams to prevent avoidable vision loss.
Hearing screening in infancy and repeated checks during childhood.
Timely cleft lip and palate surgery to support feeding and speech.
Good oral hygiene and regular dental visits.
Careful skin care and sun protection for neck lesions and scars.
Vaccinations and prompt treatment of infections.
Monitoring kidney function when there is any sign of kidney involvement.
Healthy lifestyle (sleep, exercise, balanced diet, no tobacco smoke).
Genetic counseling for families planning more children.
When to see doctors
You should see a doctor or specialist team promptly if:
A newborn or child has visible neck skin defects, eye malformations, cleft lip/palate, or unusual facial features.
There is redness, pain, discharge, or sudden change in vision in either eye.
There is persistent ear pain, discharge, or signs of hearing loss (not responding to sounds, delayed speech).
A surgical wound becomes red, swollen, very painful, or leaks pus or bad-smelling fluid.
The child has poor weight gain, feeding difficulties, frequent choking, or recurrent chest infections.
There is very little urine, swelling of the legs or face, or high blood pressure, which could suggest kidney problems.
The child or family feels overwhelmed, depressed, or anxious about appearance or repeated surgeries.
For emergency signs such as severe breathing difficulty, sudden loss of vision, seizures, or very bad pain, urgent emergency care is needed.
What to eat and what to avoid
There is no strict “BOFS diet”, but some eating patterns support health, healing, and comfort:
Eat soft, high-protein foods after lip or palate surgery
Foods like yogurt, mashed potatoes, soft rice, lentils, eggs, and smoothies are easier to swallow and kinder to surgical areas. They also give protein and calories needed for healing.Eat plenty of fruits and vegetables
Colorful fruits and vegetables provide vitamins A, C, and others that support skin and eye health and wound repair. They also give fiber, which helps prevent constipation when activity is low after surgery.Choose whole grains and healthy fats
Whole-grain bread, brown rice, oats, nuts (if safe for age), and seeds provide long-lasting energy and nutrients. Healthy fats from fish, nuts, and plant oils support brain and eye development.Drink enough water
Good hydration keeps mucous membranes moist in the eyes, mouth, and nose. It also supports kidney function and overall metabolism.Limit very hard, crunchy, or sharp foods after mouth surgery
Chips, hard nuts, and crusty bread can irritate or damage healing lips and palate stitches. Doctors usually give a time period when these foods should be avoided.Avoid sugary drinks and frequent sweets
Children with dental anomalies are at higher risk of cavities. Soda, juice with added sugar, and sticky sweets feed mouth bacteria. Keeping these rare, and brushing teeth regularly, protects dental health.Avoid very spicy, acidic, or extremely hot foods right after surgery
Spices, hot chilies, and sour citrus juices may burn healing tissues and increase pain. Mild flavors at warm, not hot, temperatures are more comfortable.Avoid tobacco smoke exposure and vaping around the child
Smoke irritates the eyes and airways, increases infection risk, and slows wound healing. Nobody should smoke or vape around a child with BOFS, especially after surgery.Limit ultra-processed “junk food”
Snacks that are high in salt, sugar, and unhealthy fat but low in nutrients add calories without giving building materials for healing tissues. Occasional treats are fine, but everyday food should be nutritious.Ask for a dietitian plan if weight is low or feeding is difficult
A dietitian can design a personalized meal plan, suggest high-calorie shakes, and adjust textures and timing to fit the child’s surgeries and therapy schedule. This can prevent both under-nutrition and excess weight gain.
Frequently asked questions (FAQs)
Is branchio-oculo-facial syndrome life-threatening?
BOFS can bring serious challenges, especially with feeding, vision, and infections, but many people live into adulthood with good quality of life when they receive proper care. Life expectancy depends on the severity of organ involvement and access to surgical and medical support.Can BOFS be completely cured?
The underlying gene change in TFAP2A cannot currently be removed or reversed. However, many of the structural problems, such as cleft lip/palate or certain eye and ear problems, can be improved significantly with surgeries and therapies.Is BOFS always inherited from a parent?
No. About half of the cases happen in families where a parent is affected. The other half result from a new mutation in the child, and the parents do not have the condition. Genetic testing and counseling can clarify this for each family.How common is BOFS?
BOFS is very rare. Only around one hundred cases have been described in the medical literature worldwide, so many doctors may never see a case.How is BOFS diagnosed?
Doctors first suspect BOFS from the combination of neck skin defects, eye malformations, and facial features. Genetic testing of the TFAP2A gene is then used to confirm the diagnosis. Other conditions, such as branchio-oto-renal syndrome, may look similar, so careful evaluation is needed.Does every person with BOFS have the same symptoms?
No. BOFS has variable expression, which means that even within one family, one person may have many features and another may have only mild signs. The severity of eye, ear, skin, and kidney problems can differ widely.Can BOFS affect intelligence or learning?
Some people with BOFS may have developmental delay or learning difficulties, but others have normal intelligence. Early developmental assessment and support can help each child reach their best potential, regardless of any challenges.Will my future children definitely have BOFS if I am affected?
If you have BOFS and a known TFAP2A mutation, each child has a 50% (1 in 2) chance of inheriting the gene change. Genetic counseling can explain options such as prenatal diagnosis or pre-implantation genetic testing.Can BOFS be seen before birth on ultrasound?
Some severe facial features, such as cleft lip or large eye abnormalities, may be visible on detailed prenatal ultrasound. However, not all features are easily seen, and genetic testing is more accurate when the family mutation is known.Does BOFS always involve kidney problems?
No. Kidney abnormalities occur in some, but not all, people with BOFS. Because kidney issues can be silent, doctors may order periodic urine tests and kidney ultrasound to be safe.Which specialists should follow someone with BOFS long term?
Typical specialists include a medical geneticist, pediatrician, craniofacial surgeon, ENT doctor, ophthalmologist, dentist/orthodontist, speech therapist, audiologist, and psychologist. The exact mix depends on the person’s problems.Are there clinical trials or research programs for BOFS?
Because BOFS is very rare, dedicated clinical trials are limited. However, research in craniofacial genetics and gene regulation may indirectly help BOFS in the future. Families can ask their geneticist about research registries that collect data on rare craniofacial syndromes.Can cosmetic surgery be done later in life?
Yes. After essential functional surgeries are done in childhood, some adults choose additional cosmetic procedures to refine scars, nose shape, or lip contour. These decisions are personal and should be made with experienced craniofacial surgeons.Does BOFS affect fertility or pregnancy in adults?
BOFS mainly affects face, neck, eyes, ears, and sometimes kidneys. Many adults with BOFS can become pregnant and have children, but pregnancy should be followed by a team aware of kidney status and airway issues. Genetic counseling is important before pregnancy.What is the most important message for families?
BOFS is complex, but families are not alone. A coordinated team, early surgeries, regular monitoring of eyes, ears, skin, and kidneys, and strong emotional support can help a child grow, learn, and take part in everyday life. Asking questions, keeping good records, and attending follow-up visits are key steps in long-term care.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and 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. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. 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. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: December 31, 2025.
