Hemangiomatous Branchial Clefts–Lip Pseudocleft Syndrome

Other names
Types
Causes
Symptoms and signs
Diagnostic tests
Non-pharmacological treatments (therapies and other measures)
Drug treatments
Dietary molecular supplements
Immunity booster / Regenerative / Stem-cell drugs
Surgeries and procedures
Preventions
When to see doctors (or go urgently)
What to eat and what to avoid
Frequently Asked Questions

Hemangiomatous branchial clefts–lip pseudocleft syndrome” describes a rare, inherited birth-defect pattern where parts of the neck, face, and eyes do not form normally before birth. Children can have red, fragile skin plaques on the neck that look “hemangiomatous” (rich in blood vessels), problems with the tear ducts, small or missing eyes, and a pseudocleft of the upper lip (the lip can look like a repaired split even if surgery never happened). Today, doctors group these features under Branchio-Oculo-Facial Syndrome (BOFS), which is usually caused by changes (mutations) in a gene called TFAP2A and often follows an autosomal dominant inheritance pattern (a single changed copy can be enough to cause the condition). Diagnosis is clinical, supported by genetics, and treatment focuses on protecting vision and hearing, repairing clefts or lip shape, caring for the neck skin, and supporting growth and development. NCBI+4PubMed+4onlinelibrary.wiley.com+4

Hemangiomatous branchial clefts–lip pseudocleft syndrome describes a rare pattern of birth differences that affect the face and neck. The key findings are:

Hemangiomatous-looking (“red, vascular”) skin lesions over the branchial (pharyngeal) cleft areas of the neck;
A pseudocleft of the upper lip (the upper lip looks like it has a repaired cleft, with strong vertical pillars and a deep philtral groove, but without a true full-thickness cleft);
Other facial differences and sometimes eye anomalies (e.g., small eye, blocked tear ducts).

This constellation was first grouped as a “new syndrome” by Hall and colleagues in 1983 after several children with the same distinctive pattern were reported. Today, this presentation is understood to fall within Branchio-Oculo-Facial Syndrome (BOFS)—a rare, usually autosomal dominant condition most often caused by pathogenic variants in TFAP2A, a gene crucial for early face and neck development. PubMed+2onlinelibrary.wiley.com+2

In BOFS, branchial/neck skin defects can range from thin atrophic skin and hair patches to erythematous “hemangiomatous” lesions that may weep or erode. Facial features often include a cleft lip or a pseudo-cleft lip, and the eyes and tear ducts may be malformed (e.g., microphthalmia, nasolacrimal duct stenosis or atresia). Because signs vary, diagnosis is based on clinical pattern recognition confirmed by molecular testing of TFAP2A. NCBI+1

Other names

Branchio-Oculo-Facial Syndrome (BOFS)
Hemangiomatous branchial clefts–lip pseudocleft syndrome (historic/older term)
Lip pseudocleft–hemangiomatous branchial cyst/cleft syndrome (historic variants in older literature)
Autosomal dominant branchio-oculo-facial syndrome

(These names reflect the same clinicogenetic spectrum; BOFS is the preferred modern term.) Wikipedia+2PubMed+2

Types

Because features vary, clinicians often think in patterns or subgroups rather than strict “types.” The following groupings help with evaluation and counseling:

Classic BOFS pattern (with pseudocleft):
Prominent philtral pillars and midline groove of the upper lip mimicking a repaired cleft (pseudocleft), plus hemangiomatous/erythematous neck skin defects over branchial areas; may include blocked tear ducts. PubMed+1
BOFS with true clefting:
A true cleft lip (with or without cleft palate) instead of a pseudocleft, again with branchial skin lesions. NCBI
BOFS with major ocular anomalies:
Microphthalmia/anophthalmia, coloboma, cataract, or severe nasolacrimal duct atresia along with the characteristic neck and lip features. NCBI
Mild/forme-fruste BOFS:
Subtle neck skin changes (thin atrophic patch, hair tuft) and faint pseudocleft features; genetics may confirm TFAP2A. NCBI
BOFS with multi-system involvement:
In addition to craniofacial features, some individuals have dental enamel defects, nail anomalies, hearing issues, or less commonly renal differences—so work-up broadens beyond the face/neck. National Organization for Rare Disorders+1

These “types” describe phenotypic clusters seen in reports and summaries; they are not formal subtypes and may overlap in the same person.

Causes

Central cause:

Pathogenic variants in TFAP2A (Transcription Factor AP-2α): This gene regulates other genes during embryonic development of the face, branchial arches, and eyes. Damaging variants disrupt normal tissue patterning, producing the BOFS spectrum that includes hemangiomatous neck lesions and lip pseudocleft. MedlinePlus

Genetic/biologic mechanisms and contributors (explanatory factors):

Autosomal dominant inheritance—one altered copy of TFAP2A can cause the condition; severity can vary within families (variable expressivity). Wikipedia
De novo mutations—a new TFAP2A variant can arise for the first time in an affected child with unaffected parents. MedlinePlus
Haploinsufficiency—one working copy of TFAP2A is not enough for normal craniofacial development. (Mechanistic inference consistent with transcription-factor disorders.) MedlinePlus
Dominant-negative effects—some missense changes may interfere with the function of the normal AP-2α protein (inferred mechanism in transcription-factor syndromes). MedlinePlus
Embryologic disruption of branchial arches—abnormal signaling in the pharyngeal arches produces neck skin defects in specific “branchial” locations. MedlinePlus
Abnormal neural crest cell behavior—AP-2α is important in neural crest derivatives that form facial structures. (Mechanistic rationale drawn from gene function.) MedlinePlus
Altered apoptosis and cell cycle regulation—AP-2α helps control cell division and programmed cell death; dysregulation can shape defective lip and eyelid/tear duct formation. MedlinePlus
Impaired nasolacrimal duct morphogenesis—leads to stenosis/atresia and tearing/infections from birth. NCBI
Pseudocleft formation—aberrant development of philtral pillars and orbicularis oris alignment yields a “repaired-cleft look” without a full cleft plane. NCBI
Ocular morphogenesis defects—microphthalmia/coloboma reflect early eye patterning errors tied to AP-2α pathways. NCBI
Cutaneous vascular-appearing lesions (“hemangiomatous”)—represent characteristic erythematous, fragile neck skin changes overlying branchial regions rather than classic infantile hemangiomas. NCBI
Variable expressivity—the same TFAP2A variant can look different across people; some have pseudocleft only, others have eye/ear/skin involvement. Wikipedia
Reduced penetrance—some carriers may show few signs, complicating family studies. (BOFS is noted to have incomplete penetrance in summaries.) Wikipedia
Mosaicism (possible)—post-zygotic mutations may lead to segmental/patchy findings in some individuals (general mechanism considered in malformation syndromes).
Modifier genes—other developmental genes can influence the final appearance and severity (general concept for variable phenotypes).
Environmental modifiers in utero (hypothesized)—non-genetic factors can shape expression of a genetic craniofacial syndrome (e.g., maternal health, exposures); evidence is limited for specific triggers in BOFS.
Epigenetic influences—gene regulation changes during embryogenesis may modify severity (theoretical contributor).
Stochastic (random) developmental variation—minor chance events in early development can change how a mutation expresses.
Diagnostic overlap with related syndromes—similar branchial/ear/eye patterns (e.g., branchio-oto-renal) can blur phenotype boundaries; careful genetic testing clarifies the cause. Wikipedia

Items are directly aligned with what we know about BOFS/TFAP2A. Items 15–20 explain why people with the same core cause can look different and why evaluation must be comprehensive; these are plausible modifiers rather than independent, proven primary causes for this exact syndrome.

Symptoms and signs

Pseudocleft of the upper lip:
The upper lip looks as if a cleft was surgically repaired, with a deep philtrum and strong columns. Speech and feeding are usually better than in a true cleft, but a specialist should assess function. NCBI
Hemangiomatous neck skin lesions (branchial areas):
Red, fragile, sometimes weeping skin in front/behind the ear or along the side of the neck where branchial arches develop. These may scar and need gentle care. NCBI
Blocked tear ducts (nasolacrimal duct stenosis/atresia):
Infants have constant tearing or discharge because tears cannot drain. Simple massage may help, but many need procedure-based opening. PubMed+1
Eye differences (microphthalmia, coloboma, cataract):
Small eyes, missing segments of eye tissue, or lens clouding may impair vision and need early ophthalmology input. NCBI
Ear anomalies and hearing issues:
Outer ear shape can be unusual; middle/inner ear differences may reduce hearing, so early hearing checks are important. MedlinePlus
Facial appearance pattern:
Features may include a broad or divided nasal tip, upslanted eyelid openings, and long/narrow head shape. These signs help clinicians recognize the syndrome. NCBI
Cleft lip (true cleft) with or without cleft palate (in some):
Some people have a real cleft that needs surgical repair and speech support. NCBI
Dental and enamel anomalies:
Teeth may erupt abnormally or have weak enamel; regular dental care and protective coatings lower risk of cavities. National Organization for Rare Disorders
Nail changes and hair findings:
Nails may look different; hair in the neck lesion areas can be unusual (e.g., hair patches). National Organization for Rare Disorders
Neck scarring/erosions:
Weeping lesions can scar as they heal, leaving thin or atrophic patches that need protection from injury. NCBI
Lower facial weakness (in some):
Asymmetric crying face or partial facial nerve weakness can be present; therapy may improve function. NCBI
Sinus/tear-duct infections:
Blocked ducts can predispose to local infection; prompt treatment prevents complications. NCBI
Speech and feeding challenges (variable):
If palate or lip function is affected, feeding or speech therapy may be needed alongside surgical care.
Psychosocial impact:
Visible facial differences can affect self-esteem; counseling and peer support help children and families.
Occasional associated organ findings:
Less commonly, kidney anomalies are reported in BOFS; ultrasound screening is often advised. FDNA™

Diagnostic tests

A) Physical examination

Comprehensive craniofacial exam:
A dysmorphology-trained clinician documents facial measurements, the appearance of the philtrum and lip (pseudo- vs. true cleft), ear shape, and the distribution of neck skin lesions to establish the pattern typical for BOFS. NCBI
Skin assessment over branchial areas:
Close inspection determines whether lesions are erythematous/“hemangiomatous,” fragile, or scarred, guiding wound care and surgical planning. NCBI
Ophthalmic bedside checks:
Basic red reflex, pupil reactions, and external eye exam screen for microphthalmia or coloboma before detailed specialist testing. NCBI
Oral cavity and palate inspection:
Determines whether there is a true cleft versus a pseudocleft; looks for submucous cleft signs that may affect speech.
Ear and airway exam:
Assesses canal patency, middle ear status, and any airway crowding related to craniofacial shape.

B) Manual/bedside tests

Cranial nerve (facial nerve) function testing:
Smiles, grimace, and eye closure strength help detect lower facial weakness often noted in BOFS. NCBI
Tear duct patency testing (bedside dye disappearance):
Fluorescein dye placed into the eye should drain through the nose; delayed clearance supports nasolacrimal obstruction before imaging. NCBI
Tuning-fork screening (hearing):
Quick Rinne/Weber tests suggest conductive vs. sensorineural components, guiding audiology.
Speech and feeding assessment:
Functional evaluation by speech-language professionals identifies resonance or articulation issues related to lip/palate configuration.

C) Laboratory and pathological/genetic tests

Molecular testing of TFAP2A (sequencing and deletion/duplication):
Confirms the diagnosis and informs inheritance risk for family members; now considered the gold-standard laboratory confirmation for BOFS spectrum. MedlinePlus
Targeted gene panel for craniofacial/branchial disorders (if TFAP2A negative):
Covers differential diagnoses with overlapping features (e.g., branchio-oto-renal). This prevents mislabeling. Wikipedia
Chromosomal microarray (as indicated):
Looks for larger deletions/duplications that could include TFAP2A or other relevant regions.
Wound swab/culture (if lesions are weeping/infected):
Guides topical/systemic therapy to promote healing of fragile neck skin.
Basic labs (CBC, inflammatory markers) when infection suspected:
Monitors systemic impact of skin/duct infections.
Renal function tests (if renal anomalies suspected):
Checks kidney health because occasional kidney issues have been reported in BOFS. FDNA™

D) Electrodiagnostic and physiologic tests

Auditory brainstem response (ABR) or otoacoustic emissions (OAE):
Objective hearing tests for infants and non-verbal children to define hearing level and guide early intervention.
Facial nerve electrophysiology (select cases):
If facial weakness is significant, studies can quantify nerve function for prognosis and therapy planning.

E) Imaging tests

Nasolacrimal duct imaging (dacryocystography or nuclear lacrimal scintigraphy) or dedicated ophthalmic imaging:
Defines the site of obstruction, which helps plan probing or stenting procedures. NCBI
Temporal bone/ear imaging (CT/MRI as indicated):
Assesses middle/inner ear structures if hearing loss suggests structural anomalies.
Renal ultrasound (screening):
Non-invasive scan to look for structural kidney differences sometimes associated with BOFS. FDNA™
Facial/cranial CT or MRI (selective):
Maps complex craniofacial anatomy when surgery is planned.
Ocular imaging (ultrasound/optical coherence tomography) in microphthalmia or coloboma:
Clarifies internal eye structure to guide vision-saving care. NCBI

Non-pharmacological treatments (therapies and other measures)

Below are practical, family-friendly measures that are commonly part of care plans. Each item explains what it is, purpose, and how it works in simple terms.

Multidisciplinary care plan.
Purpose: Coordinate specialists so care is safe and timely.
Mechanism: A shared plan between genetics, pediatrics, plastic surgery, ENT/audiology, ophthalmology, dermatology, dentistry/orthodontics, and speech therapy prevents gaps and reduces repeated procedures. Early planning supports feeding, speech, and eye protection. NCBI
Genetic counseling and family testing.
Purpose: Explain inheritance, offer testing to relatives, and guide family planning.
Mechanism: Counselors discuss autosomal dominant patterns, recurrence risk, and options such as prenatal or preimplantation testing. NCBI+1
Skin protection of neck plaques (“hemangiomatous” lesions).
Purpose: Reduce irritation, crusting, and infection.
Mechanism: Gentle cleansing, non-stick dressings, barrier ointments, and avoiding friction help fragile skin heal and stay intact; prompt wound care lowers infection risk. NCBI
Feeding and swallowing support.
Purpose: Maintain growth and prevent aspiration when lip/palate shape affects feeding.
Mechanism: Lactation support, specialty nipples, positioning, and speech-language therapy techniques help infants seal, suck, and swallow safely. NCBI
Early hearing assessment and amplification if needed.
Purpose: Support language development.
Mechanism: Newborn screening, repeated audiology tests, and early hearing aids or bone-conduction devices prevent language delay from conductive loss related to ear malformations. NCBI
Vision protection and stimulation.
Purpose: Support visual development when eyes are small or tear ducts are blocked.
Mechanism: Ophthalmology may use conformers in severe microphthalmia to help the socket grow, manage corneal protection with lubricants, and address tear-duct obstruction. Visual stimulation activities are encouraged. NCBI
Speech-language therapy.
Purpose: Improve speech sounds and resonance after lip/palate repair or in pseudocleft.
Mechanism: Structured exercises strengthen oral muscles and correct articulation and air flow through the nose (velopharyngeal competence). NCBI
Dentistry and orthodontics.
Purpose: Manage tooth eruption problems and bite alignment.
Mechanism: Early dental exams, caries prevention, and later orthodontics guide jaw and tooth position, improving function and aesthetics. NCBI
Sun and friction avoidance over neck lesions.
Purpose: Limit irritation and discoloration.
Mechanism: Clothing planning, soft fabrics, and sunscreen (age-appropriate) minimize trauma to thin, vascular skin. NCBI
Wound-care nursing for erosions.
Purpose: Speed healing and prevent infection of weepy neck plaques.
Mechanism: Moist-wound healing with appropriate dressings and careful monitoring of edges/exudate. NCBI
Developmental surveillance and early intervention.
Purpose: Catch and support any motor, language, or social delays.
Mechanism: Regular screening and referral to physiotherapy, occupational therapy, or early-childhood programs improves outcomes. NCBI
Psychosocial support for family.
Purpose: Reduce anxiety and stress related to surgeries and visible differences.
Mechanism: Social work and peer groups offer coping tools and practical help around hospital visits. NCBI
Eye surface lubrication (non-medicated tears) and lid hygiene.
Purpose: Protect the cornea when tear flow is abnormal.
Mechanism: Regular artificial tears and simple lid hygiene reduce dry spots and irritation; ophthalmology guides frequency. NCBI
Safe-sleep and airway awareness in infants.
Purpose: Lower risk from potential airway crowding or reflux after procedures.
Mechanism: Positioning guidance and caregiver education on warning signs; ENT supervises if airway issues suspected. NCBI
Scar-care after repairs.
Purpose: Optimize cosmetic outcome.
Mechanism: Silicone gel/sheets, massage, and sun protection reduce hypertrophic scarring; plastic surgery advises timing. NCBI
School accommodations and speech/hearing supports.
Purpose: Ensure equal learning access.
Mechanism: Classroom seating, FM systems for hearing, and speech therapy at school are arranged as needed. NCBI
Nasal hygiene and saline irrigation (age-appropriate).
Purpose: Ease crusting and blockage around nasal tip abnormalities or after surgery.
Mechanism: Isotonic saline loosens secretions; ENT provides technique and frequency. NCBI
Regular dental fluoride and sealants.
Purpose: Protect enamel in children who may have feeding or oral-motor challenges.
Mechanism: Topical fluoride and protective sealants lower cavity risk long-term. NCBI
Routine immunizations per schedule.
Purpose: Prevent common infections that can complicate wound healing or recovery.
Mechanism: Standard pediatric vaccines reduce risk of severe infections; coordinate with surgical timings as needed. NCBI
Genetics-led follow-up into adolescence.
Purpose: Track growth, facial changes, hearing/vision, and psychosocial health over time.
Mechanism: Periodic review ensures interventions are updated and anticipatory guidance is given before transitions (school, orthodontics, adult care). NCBI

Drug treatments

Very important: There is no drug that cures BOFS. Medicines below treat particular manifestations (e.g., infantile hemangioma-like lesions, skin infection, pain). Doses are examples from FDA labels; clinicians personalize dosing and timing for each child.

Propranolol oral solution (HEMANGEOL®) — for proliferating infantile hemangioma when present.
Class: Non-selective β-blocker.
Typical pediatric dosing/timing (label): Start 0.6 mg/kg twice daily at age 5 weeks–5 months; titrate weekly to 1.7 mg/kg twice daily (maintenance), given at least 9 hours apart, with feeds. Duration individualized.
Purpose & mechanism: Shrinks hemangioma by vasoconstriction, down-regulating pro-angiogenic signals, and lowering cardiac output to the lesion; improves ulceration, bleeding risk, and function when large facial lesions affect feeding/vision. Note: Indicated for infantile hemangioma, not specifically “BOFS”; use is based on clinical phenotype.
Key adverse effects: Hypoglycemia (especially with poor feeding), bradycardia, hypotension, bronchospasm—strict caregiver education is essential. FDA Access Data+2FDA Access Data+2
Timolol ophthalmic solution (e.g., TIMOPTIC®) — sometimes used off-label topically for small superficial hemangiomas; on-label for glaucoma.
Class: Ocular β-blocker.
Label dosing (ocular): 1 drop of 0.25%–0.5% solution into affected eye(s) once or twice daily (glaucoma).
Purpose & mechanism (off-label for cutaneous hemangioma): Local β-blockade may constrict vessels and slow lesion growth when used topically on small, superficial lesions; decision is specialist-driven.
Key adverse effects: Systemic absorption is possible; watch for bradycardia/bronchospasm; avoid on large eroded areas. FDA Access Data+1
Mupirocin 2% ointment — for bacterial skin infection of neck lesions (impetiginization).
Class: Topical antibiotic (inhibits isoleucyl-tRNA synthetase).
Label dosing: Apply small amount to affected area 3 times daily for up to 10 days.
Purpose & mechanism: Reduces Staphylococcus aureus and Streptococcus pyogenes load to help fragile plaques heal.
Side effects: Local burning/stinging; rare local sensitization. Avoid prolonged, repeated courses without review. FDA Access Data+1
Amoxicillin–clavulanate (AUGMENTIN®) — for deeper or spreading skin/soft-tissue infection when indicated by a clinician.
Class: β-lactam antibiotic + β-lactamase inhibitor.
Label dosing: Weight-based pediatric dosing; administer with a light meal; follow product-specific tables for mg/kg per day divided q12h or q8h.
Purpose & mechanism: Broad aerobic/anaerobic coverage for likely skin flora when cellulitis or deeper infection is suspected.
Key cautions: Use only for infections proven or strongly suspected to be bacterial to reduce resistance; GI upset and rash are common. FDA Access Data
Acetaminophen (paracetamol) — peri-operative or wound-related pain/fever control.
Class: Analgesic/antipyretic.
Label dosing: Age- and weight-based; typical pediatric total not to exceed 75 mg/kg/day (max per specific product label).
Purpose & mechanism: Central COX inhibition for pain/fever relief without platelet effects, helpful around surgeries like cleft repair.
Caution: Avoid overdose; heed combination products. (Use a product-specific FDA label for exact limits.) NCBI
Topical petrolatum-based barrier (OTC product, not prescription drug) — skin barrier support for erosions.
Class: Protectant (non-active drug).
Use: Frequent thin layers on clean skin as directed by clinician.
Purpose & mechanism: Occlusive barrier reduces TEWL (water loss), friction, and contamination; supports re-epithelialization of thin plaques. NCBI
Ophthalmic lubricants (artificial tears) — corneal protection with tear-duct blockage or exposure.
Class: Demulcents (OTC).
Use: Drops/gel as advised by ophthalmology.
Purpose & mechanism: Maintains moisture film and protects cornea to prevent abrasions and scarring in dry/exposed eyes. NCBI
Nasal saline — hygiene in nasal tip abnormalities.
Class: Isotonic saline (OTC).
Use: Age-appropriate sprays/drops per ENT guidance.
Purpose & mechanism: Gently clears crusts and reduces local irritation after procedures. NCBI
Sirolimus (RAPAMUNE®) — not a standard BOFS medicine; occasionally used off-label in complex vascular anomalies under expert supervision.
Class: mTOR inhibitor (immunosuppressant).
Label indication: Prevention of kidney-transplant rejection (on-label).
Purpose & mechanism (off-label context): mTOR pathway modulation can slow abnormal vessel growth in selected vascular anomalies; risks include immunosuppression, mucositis, dyslipidemia—specialist-only. FDA Access Data+1
Peri-operative antibiotics, antiemetics, and anesthesia medicines — used as needed around surgeries such as cleft/pseudocleft repair; the exact drugs/doses depend on age, weight, and procedures. Your surgical team provides the specific medication plan. NCBI

Items explicitly cite FDA labels. Some items (barrier ointments, tears, saline) are supportive OTCs guided by specialists.

Dietary molecular supplements

Supplements are not a cure. Prioritize balanced nutrition and adequate protein/calories; use supplements when deficiencies or added needs are identified by clinicians/dietitians.

Protein (complete protein, including essential amino acids).
Dose: Dietitian-guided; in wound healing, total needs can rise toward 1.5–2× RDA.
Function & mechanism: Protein provides amino acids for collagen and tissue repair; energy and protein needs rise with chronic wounds or after surgery. Adequate intake prevents muscle loss and supports immune function. PMC+1
Vitamin C (ascorbic acid).
Dose: Usual age-appropriate RDA; higher short-term intakes may be considered by clinicians when wound demand is high.
Function & mechanism: Required cofactor for collagen synthesis; supports connective tissue and wound closure; antioxidant recycling of vitamin E. Office of Dietary Supplements+1
Zinc.
Dose: Keep within age-specific RDA; avoid excess without testing because high zinc can cause copper deficiency.
Function & mechanism: Supports DNA/RNA synthesis, cell division, and wound healing; deficiency impairs epithelial repair and immunity. Office of Dietary Supplements+1
Vitamin D (with adequate calcium).
Dose: Age-appropriate RDA; test-guided supplementation if deficient.
Function & mechanism: Aids bone growth/mineralization, essential through childhood; supports muscle function and overall growth needed for recovery after multiple procedures. Office of Dietary Supplements+2Office of Dietary Supplements+2
Omega-3 fatty acids (EPA/DHA).
Dose: Food first (fish 1–2×/week); supplement only if advised.
Function & mechanism: Modulates inflammatory eicosanoids; may help temper excessive inflammation that delays wound healing; overall effects depend on total diet balance. Office of Dietary Supplements+1
Iron (when deficient).
Dose: Only if lab-confirmed deficiency; dose per pediatric guidelines.
Function & mechanism: Restores hemoglobin and oxygen delivery for healing; deficiency causes fatigue and slows repair. (Use clinician-guided dosing.) Office of Dietary Supplements
Folate and Vitamin B12 (when deficient).
Dose: RDA-based unless deficiency; clinician-guided repletion.
Function & mechanism: DNA synthesis and cell division for tissue growth; correct deficiency to support mucosal and skin healing. Office of Dietary Supplements
Vitamin A (avoid excess).
Dose: RDA only unless deficiency; avoid hypervitaminosis.
Function & mechanism: Epithelial integrity and immune function; deficiency impairs wound closure and resistance to infection. Office of Dietary Supplements
Arginine-rich foods/supplements (specialist-guided).
Dose: Case-by-case; may be included in medical nutrition formulas.
Function & mechanism: Substrate for nitric oxide and collagen deposition; can support wound granulation in selected malnourished patients. PMC
Probiotics (selected strains, clinician-guided).
Dose: Product/strain-specific if used.
Function & mechanism: May help maintain gut balance during/after antibiotics used for skin infections; evidence varies—use individualized plans. PMC

Immunity booster / Regenerative / Stem-cell drugs

There are no FDA-approved “immunity booster,” regenerative, or stem-cell drugs for BOFS. Using stem-cell products outside approved trials is not recommended and can be harmful. Safer, evidence-based ways to support healing include: (1) routine vaccinations, (2) adequate protein/calories, (3) correction of nutrient deficiencies (e.g., iron, vitamin D), (4) good wound care, (5) treating infections early, and (6) timely surgical repair when indicated—each supervised by specialists. NCBI

Surgeries and procedures

Cleft or pseudocleft lip repair (cheiloplasty)
Why: Improve feeding, speech articulation, and facial symmetry.
What happens: Pediatric plastic surgeons close and shape the lip with precise techniques; later touch-ups address scar or symmetry. NCBI
Cleft palate repair (if present) and velopharyngeal procedures
Why: Improve speech resonance, reduce nasal regurgitation, and support middle-ear health.
What happens: Repair closes the palate; secondary procedures may refine soft-palate function if speech remains hypernasal. NCBI
Excision/reconstruction of branchial skin defects (neck)
Why: Remove chronically weepy, fragile plaques; reduce infection and improve comfort/appearance.
What happens: Dermatology and plastic surgery plan staged excision with local flaps or grafts; scar care follows. NCBI
Nasolacrimal duct procedures
Why: Treat persistent tear-duct blockage to protect the eye and comfort.
What happens: Probing/irrigation; if needed, stenting or dacryocystorhinostomy in older children. NCBI
Ear reconstruction and hearing rehabilitation
Why: Improve sound conduction and ear shape.
What happens: Options range from canaloplasty/ossicular work to external ear frameworks and hearing devices; choices are staged over years. NCBI

Preventions

Regular specialist follow-up to catch problems early (vision, hearing, dental). NCBI
Infection prevention: gentle skin care of neck lesions; prompt care for cracks/erosions. NCBI
Up-to-date vaccinations to lower severe infection risk around surgeries. NCBI
Nutrition and growth monitoring to support wound healing and recovery. PMC
Scar care and sun protection after repairs to optimize results. NCBI
Hearing surveillance and early amplification to prevent speech/language delay. NCBI
Ocular surface protection (lubrication, lids hygiene) to prevent corneal damage. NCBI
Dental hygiene (fluoride, sealants) to prevent caries and enamel damage. NCBI
Avoid friction/trauma to neck plaques; choose soft fabrics and careful clothing seams. NCBI
Genetic counseling for family planning decisions. NCBI

When to see doctors (or go urgently)

New eye redness, pain, light sensitivity, or vision changes—eye emergencies can threaten sight. NCBI
Skin lesions that rapidly weep, crust, or spread, fever, or severe pain—may indicate infection. NCBI
Feeding difficulty, poor weight gain, choking/coughing with feeds, or recurrent chest infections. NCBI
Nasal regurgitation or speech that becomes very nasal after palate repair—may need reassessment. NCBI
Any breathing trouble, noisy breathing, or color change—seek urgent evaluation. NCBI
Hearing concerns (not responding to sounds, delayed speech). NCBI

What to eat and what to avoid

Eat: protein-rich foods (eggs, dairy, fish, lean meats, legumes, soy) at each meal to support repair. Why: Protein supplies amino acids for collagen and healing. PMC
Eat: fruits/vegetables high in vitamin C (citrus, berries, kiwi, peppers) for collagen production. Office of Dietary Supplements
Eat: foods with zinc (meat, seafood, beans, nuts, fortified cereals) to support immunity and healing. Office of Dietary Supplements
Eat: vitamin D and calcium sources (fortified milk/yogurt, fish, safe sun exposure as advised). Office of Dietary Supplements
Eat: oily fish 1–2×/week (salmon, sardines) for omega-3 fatty acids. Office of Dietary Supplements
Avoid: low-protein grazing; aim for regular, balanced meals/snacks for growth. PMC
Avoid: excess zinc supplements unless prescribed (risk of copper deficiency). Office of Dietary Supplements
Avoid: hard or sharp foods right after lip/palate procedures; follow your surgeon’s texture plan. NCBI
Avoid: sugary drinks/constant sipping that increase dental caries risk. NCBI
Avoid: unapproved herbal “immune boosters” or stem-cell products—no evidence and potential harms. NCBI

Frequently Asked Questions

Is this the same as BOFS?
Yes. The older name (“hemangiomatous branchial clefts–lip pseudocleft syndrome”) refers to BOFS today. Wikipedia
What gene is involved?
Most cases involve TFAP2A gene changes. Genetic testing can confirm. MedlinePlus
How is it inherited?
Usually autosomal dominant, but many cases are new (de novo) in the child. MedlinePlus
Is there a cure?
No single cure; care focuses on surgeries, vision/hearing support, and skin/wound management. NCBI
Can medicines fix it?
Medicines treat specific problems (e.g., infected skin, pain). Some infants with hemangioma-like lesions may benefit from propranolol oral solution following FDA-labeled dosing—for infantile hemangioma, not BOFS itself. FDA Access Data
Are stem-cell therapies recommended?
No. There are no FDA-approved stem-cell drugs for BOFS; avoid unregulated products. NCBI
Will my child need surgery?
Often yes—lip/palate repair, tear-duct procedures, and sometimes ear/neck skin reconstruction; timing is individualized. NCBI
What about hearing and speech?
Early hearing checks and speech-language therapy are important to support language development. NCBI
How do we protect the eyes?
Ophthalmology may recommend lubrication, treating tear-duct blockage, and in severe microphthalmia, socket conformers to aid growth. NCBI
Is the neck skin a hemangioma?
BOFS neck lesions are described as erythematous/“hemangiomatous” plaques or erosions; management centers on protection and staged reconstruction if needed. NCBI
Could this be PHACE syndrome instead?
PHACE features large segmental infantile hemangiomas plus brain/arterial/eye/heart anomalies; BOFS has branchial skin lesions, pseudocleft lip, and TFAP2A changes—different entities, though both involve vascular-appearing lesions. PMC+1
Is growth affected?
Most children can grow well with feeding support, surgery when needed, and nutrition planning. NCBI
Will this affect teeth?
Dental and orthodontic care are often needed due to facial/oral differences; early dental homes are recommended. NCBI
Can we prevent infections of neck plaques?
Yes—gentle daily care, barrier ointments, and prompt review of new weeping/crusting; antibiotics only when clinically indicated. FDA Access Data+1
What specialists should we see first?
Pediatrics, genetics, plastic surgery, ENT/audiology, and ophthalmology; your team will add dermatology, dentistry/orthodontics, and speech therapy. NCBI

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Last Updated: November 02, 2025.

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