Lip pseudocleft–hemangiomatous branchial cyst syndrome is a birth-time (congenital) condition that affects how parts of the face, eyes, and neck form before a baby is born. The most typical skin changes appear on the side of the neck or near the ear. These spots can look thin, red, or “hemangiomatous” (rich in tiny blood vessels), and sometimes they break down and weep. Many children have features that involve the upper lip—either a true cleft lip, a cleft palate, or a “pseudocleft” look (the philtral pillars give the illusion of a repaired cleft). Eye differences can include small eyes, missing parts of the eye (coloboma), blocked tear ducts, and other findings. Ear shape can be unusual, and hearing or tear drainage problems may occur. The condition varies a lot from person to person—some children have mild signs, others have broader involvement. MedlinePlus+1
BOFS affects how parts of the face and neck grow in the womb. Changes in the TFAP2A gene disturb normal development of the branchial (pharyngeal) arches—embryonic building blocks for the neck, ears, eyes, and lips. Because these tissues grow abnormally, children may have red, “hemangiomatous” patches or erosions on the neck (from branchial cleft skin), a lip that looks like it was repaired (pseudocleft) or a true cleft lip/palate, unusual ear shape with narrow canals, tear-duct problems, and eye differences ranging from small eyes to missing eyes in very severe cases. Some children have hearing loss or kidney differences. Intelligence varies; many children do well with early support. The name “lip pseudocleft–hemangiomatous branchial clefts” comes from early case reports that described the striking combination of neck skin changes and lip appearance. Today we usually say Branchio-Oculo-Facial Syndrome. MedlinePlus+2NCBI+2
The TFAP2A gene encodes AP-2α, a transcription factor that turns on/off many developmental genes. When TFAP2A is altered, cells in the branchial arches don’t follow the usual blueprint, so skin, cartilage, and mucosa in the neck/face form differently. This explains the mix of branchial skin lesions, facial/lip anomalies, ear canal issues, and ocular findings. MedlinePlus
Other names
Branchio-oculo-facial syndrome (BOFS) — the preferred modern name.
Hemangiomatous branchial clefts–lip pseudocleft syndrome — the original descriptive name from the first report in 1983.
BOF syndrome — a shortened clinical term.
These all refer to the same clinical spectrum. PubMed+1
Types
There are no official, universally accepted subtypes of BOFS. Instead, clinicians talk about phenotypic patterns (how it shows up), such as:
Classic BOFS — neck/near-ear hemangiomatous skin defects plus facial features and eye findings.
Face-dominant pattern — lip pseudocleft/cleft and facial shape differences with mild or no skin lesions.
Eye-dominant pattern — stronger eye involvement (e.g., coloboma, microphthalmia) with subtle facial or skin signs.
Atypical/limited forms — confirmed TFAP2A mutation but only one system prominently affected (reported in case literature).
Genetic testing helps confirm all of these are within the same disorder spectrum. PMC+1
Causes
In BOFS, “cause” means ways the TFAP2A gene can be disrupted. TFAP2A makes a protein (AP-2α) that controls many other genes during early face/neck/eye development. When TFAP2A does not work, development is altered. Below are genetic mechanisms or pathways that can lead to the same syndrome:
Missense variants in TFAP2A — a single “letter” change alters the protein’s shape, especially in the DNA-binding region; this is a common cause. PubMed+1
Small deletions in TFAP2A — part of the gene is missing, reducing function (haploinsufficiency). Ovid
Nonsense variants — a “stop” signal appears too early; the protein is cut short and cannot work. MedlinePlus
Frameshift variants — small insertions/deletions shift the reading frame and scramble the protein. MedlinePlus
Splice-site variants — disrupt how the gene’s pieces are joined, creating a faulty protein. onlinelibrary.wiley.com
Whole-gene deletions (6p24) — the entire TFAP2A gene region is missing. Ovid
Larger chromosomal microdeletions including TFAP2A — remove TFAP2A plus nearby regulatory DNA. Ovid
Promoter/regulatory variants — change TFAP2A “on/off” control, lowering expression at the wrong time. onlinelibrary.wiley.com
De novo variants — brand-new changes in the child, not present in either parent (common in sporadic cases). PubMed
Inherited autosomal-dominant variants — passed from an affected parent; each child has a 50% chance. rarediseases.org
Parental germline mosaicism — a parent has a mutation in some egg/sperm cells only, so they look unaffected but can have affected children. NCBI
Post-zygotic (somatic) mosaicism in the child — not all cells carry the variant, producing milder or patchy features. NCBI
Dominant-negative missense effects — the altered TFAP2A protein interferes with the normal copy. PMC
Loss of DNA-binding affinity — specific hotspot changes in exons 4–5 weaken binding to target genes during development. PubMed
Haploinsufficiency — having only one working TFAP2A copy is not enough for normal craniofacial development. Ovid
Altered interaction with partner proteins — mutant TFAP2A cannot partner properly with other factors needed for facial/eye formation. PMC
Disrupted neural crest signaling — downstream genes that guide migrating neural crest cells are mis-regulated. PMC
Epigenetic dysregulation of TFAP2A targets — abnormal gene “switches” during early embryo growth amplify the effect. PMC
Copy-number variation of TFAP2A — extra or missing copies alter dosage and timing of expression. Ovid
Rare locus complexity — studies suggest TFAP2A is the primary gene, but genetic heterogeneity may exist in rare cases; ongoing research continues to look for modifiers. PubMed
Common symptoms/signs
Neck/near-ear skin plaques that look red and vascular (“hemangiomatous”) or thin—typical BOFS skin changes. MedlinePlus
“Pseudocleft” appearance of the upper lip (prominent philtral pillars that mimic a repaired cleft). NCBI
True cleft lip and/or cleft palate in some children. MedlinePlus
Blocked tear ducts (nasolacrimal duct stenosis/atresia) causing tearing and eye discharge. NCBI
Small eyes (microphthalmia) or missing parts of the eye (coloboma); eyesight can be reduced. MedlinePlus
Cataract or other lens problems, sometimes from birth. NCBI
Unusual ear shape or hearing issues (external/middle ear anomalies and temporal-bone changes have been reported). NCBI+1
Facial shape differences such as wide-set eyes (hypertelorism), upslanted eye openings, broad nasal tip, or a long head shape. NCBI
Upper-lip pits (less common than lower-lip pits of other syndromes, but upper-lip pits are noted in BOFS). NCBI
Lower facial weakness (asymmetric crying face) from partial facial-nerve weakness. NCBI
Growth differences (some reports note low birth weight or slower growth). monarchinitiative.org
Hair changes such as sparse hair or early graying in some individuals. monarchinitiative.org
Dental differences, including missing teeth or enamel issues (less central in BOFS than in Van der Woude but can occur). MedlinePlus
Kidney anomalies (reported in some patients; screening is often advised). Wikipedia
Variable learning/behavioral concerns (some individuals are unaffected; others have developmental challenges—the range is wide). rarediseases.org
Diagnostic tests
A) Physical-exam–based assessments (bedside/clinic)
Full craniofacial exam — careful look at the upper lip (true cleft vs pseudocleft), palate, philtrum, nose, eyes, ears, jaw, and facial nerve movement to spot the pattern typical of BOFS. MedlinePlus
Skin exam of neck/ear region — to identify red, vascular plaques or thin/eroded patches that fit BOFS. MedlinePlus
Ophthalmology slit-lamp and dilated fundus exam — screens for coloboma, cataract, microphthalmia, and other eye differences common in BOFS. MedlinePlus
Ear/nose/throat (ENT) exam — checks external ear shape, ear canal, palate movement, and signs of eustachian-tube dysfunction or middle-ear fluid. NCBI
Tear-duct patency check — simple clinic tests (fluorescein disappearance) to suggest nasolacrimal blockage, which is reported in BOFS. NCBI
B) “Manual”/bedside functional tests
Vision screening and cover–uncover test — quick checks for visual acuity and strabismus that may accompany structural eye differences. MedlinePlus
Bedside hearing checks (whisper/tuning fork) — initial screen to decide if formal hearing tests are needed. NCBI
Palatal function assessment (speech/feeding observation) — looks for nasal speech or regurgitation suggesting cleft palate effects. MedlinePlus
Lacrimal sac compression (“ROPLAS”) — gentle pressure tests for reflux of tears/mucus, supporting suspected duct obstruction. MedlinePlus
Cranial-nerve facial movement exam — documents asymmetry or weakness (asymmetric crying face). NCBI
C) Lab & pathological / genetic tests
Targeted TFAP2A sequencing (NGS or Sanger) — the key diagnostic test; finds most point mutations and small indels. PMC
Deletion/duplication analysis (e.g., MLPA or exome CNV calling) — detects larger TFAP2A copy-number changes missed by sequencing. Ovid
Chromosomal microarray — looks for 6p24 microdeletions that include TFAP2A and nearby regions. Ovid
Parental testing — clarifies inheritance (de novo vs inherited) and recurrence risk counseling. rarediseases.org
Prenatal options (CVS/amnio) or preimplantation genetic testing — available in families with a known TFAP2A variant. NCBI
D) Electrodiagnostic studies
Electroretinography (ERG) — evaluates retinal function when eye structure differences or vision loss are present. MedlinePlus
Visual-evoked potentials (VEP) — objective measure of visual pathway function in infants/young children with BOFS eye anomalies. MedlinePlus
Auditory brainstem response (ABR) — objective newborn/infant hearing test when ear anomalies raise concern. NCBI
E) Imaging tests
High-resolution temporal-bone CT/MRI — maps middle/inner-ear structures when hearing problems are suspected; BOFS-related temporal-bone anomalies have been described. ResearchGate
Neck ultrasound / MRI of branchial region — defines deep components of skin/branchial anomalies and helps surgical planning; renal ultrasound may be added because kidney differences sometimes occur. MedlinePlus+1
Non-pharmacological treatments (therapies & others)
Craniofacial team care
Description (what): Coordinated care by plastic surgery, ENT, ophthalmology, pediatrics, audiology, dentistry/orthodontics, speech-language, genetics, and psychology. Purpose: Aligns many moving parts (lip/palate repair, hearing/vision support, dental occlusion, airway and feeding). Mechanism: Regular team reviews create a stepwise plan from infancy through adolescence, preventing gaps—e.g., addressing middle ear fluid before speech therapy, or planning alveolar bone grafting with orthodontics. NCBIWound/skin care for hemangiomatous branchial lesions
Description: Gentle cleansing, non-stick dressings, moisture balance, and infection surveillance for weeping or erosive neck skin. Purpose: Reduce pain, prevent infection/scarring, and protect fragile skin. Mechanism: Moist-wound healing supports keratinocyte migration and reduces crusting; barrier dressings limit friction; prompt culture-guided treatment if infected. NCBISun and friction protection
Description: Broad-spectrum sunscreen, soft collars/scarves, and careful clothing seams. Purpose: Prevents irritation/ulceration of vascular neck plaques. Mechanism: UV protection reduces inflammation and pigment changes; mechanical protection limits micro-trauma that can trigger erosion. NCBIEarly feeding support
Description: Lactation/feeding therapy, specialized nipples, and positioning for infants with cleft/pseudocleft or nasal regurgitation. Purpose: Ensure safe intake, weight gain, and reduce aspiration. Mechanism: Controlled flow and posture compensate for poor lip seal or palatal gap; frequent burping reduces reflux through clefts. NCBISpeech-language therapy
Description: Early assessment and ongoing therapy for articulation and velopharyngeal function post-cleft repair. Purpose: Improve intelligibility and social participation. Mechanism: Motor-speech exercises and resonance strategies retrain airflow and articulation after structural correction. NCBIAudiology & hearing rehabilitation
Description: Newborn hearing screen, periodic audiograms, tympanometry; hearing aids or bone-conduction devices as needed. Purpose: Protect language development and school performance. Mechanism: Identifies conductive loss (e.g., canal stenosis/middle ear fluid) early; amplification bridges the gap while ENT manages middle ear disease. NCBIOcular care & low-vision support
Description: Regular ophthalmology; conformer use in severe micro/anophthalmia; optical aids/low-vision services. Purpose: Promote orbital growth and maximize functional vision. Mechanism: Conformers gradually expand the socket; early refraction and visual rehabilitation optimize neuro-visual pathways. NCBIDental & orthodontic management
Description: Early dental hygiene instruction, caries prevention, interceptive orthodontics, and later occlusal correction. Purpose: Maintain oral health and facial growth harmony. Mechanism: Timed orthodontic forces coordinate with craniofacial growth and upcoming surgeries (e.g., alveolar grafts). NCBIENT care for branchial anomalies
Description: Workup of cysts/sinuses/fistulae, infection control, and scheduling of definitive excision. Purpose: Prevent recurrent infections and deep-neck complications. Mechanism: Imaging and endoscopy map tracts; skin care and antibiotics treat flares; surgery removes epithelial remnants. NCBI+1Airway and sleep monitoring
Description: Screen for airway obstruction/snoring, especially around surgery or with craniofacial anomalies. Purpose: Prevent hypoxia and poor sleep quality. Mechanism: Polysomnography when indicated; positional strategies; ENT evaluates adenotonsillar contribution. NCBIRenal surveillance
Description: Baseline renal ultrasound and periodic checks if anomalies suspected. Purpose: Detect structural differences early. Mechanism: Ultrasound finds hydronephrosis or dysplasia; nephrology guides follow-up. MedlinePlusGenetic counseling
Description: Family education on autosomal-dominant inheritance, variable expressivity, and testing. Purpose: Inform reproductive choices and family screening. Mechanism: Pedigree analysis and TFAP2A testing where appropriate. MedlinePlusPsychosocial support
Description: Counseling, peer groups, school advocacy. Purpose: Build resilience, address teasing/body-image stress, support parents. Mechanism: Cognitive-behavioral tools and social skills training reduce anxiety and improve participation. NCBIScar management
Description: Silicone gel/sheets, massage, pressure therapy post-surgery. Purpose: Improve cosmesis and comfort. Mechanism: Silicone normalizes hydration and fibroblast activity; massage remodels collagen. NCBIInfection prevention education
Description: Early signs of neck skin infection, ear discharge, or dental abscess; timely clinic contact. Purpose: Avoid deep-neck space infections. Mechanism: Prompt care prevents spread along branchial tracts. CureusPeri-operative planning
Description: Clear timelines for cleft lip/palate repair, branchial cyst excision, ear/nasal procedures. Purpose: Minimize anesthesia exposures and optimize outcomes. Mechanism: Staging operations with growth milestones (e.g., lip in infancy, palate before speech milestones). NCBISchool-based accommodations
Description: Individualized education plans for hearing/vision issues and speech therapy access. Purpose: Ensure equal learning opportunities. Mechanism: Preferential seating, FM systems, extra time for communication tasks. NCBIPain management (non-opioid first)
Description: Age-appropriate acetaminophen/ibuprofen dosing after procedures; non-drug measures (ice, elevation). Purpose: Comfort and faster recovery. Mechanism: COX inhibition reduces inflammatory pain; multimodal strategies lower opioid need. NCBIRegular dental prophylaxis
Description: Fluoride, sealants, and hygiene coaching. Purpose: Reduce caries risk around repaired clefts and altered anatomy. Mechanism: Strengthens enamel and reduces bacterial load. NCBICare coordination & records
Description: Shared summaries for all specialists and the family. Purpose: Prevents duplicate tests, clarifies plans. Mechanism: Centralized documentation and agreed follow-up intervals. NCBI
Drug treatments
There are no FDA-approved drugs for BOFS itself. Medications are used for specific problems (e.g., treating a skin infection, managing ear disease, eye lubrication, pain control) under clinician supervision. Below are common examples clinicians might use; always individualize dosing to age/weight/renal function and follow the exact FDA label. NCBI
1) Propranolol oral solution (Hemangeol®) for infantile hemangioma
Class: Non-selective β-blocker. Typical pediatric dosing/timing: Per FDA label (e.g., start ~0.6 mg/kg twice daily and titrate; dosing and age limits vary—follow label exactly). Purpose: Shrink problematic infantile hemangiomas (airway risk, ulceration, visual axis). Mechanism: Vasoconstriction, ↓VEGF/bFGF, and anti-angiogenic effects in hemangioma. Side effects: Hypoglycemia risk in infants, bradycardia, hypotension, bronchospasm; careful feeding instructions required. Note: Use is for infantile hemangioma—not BOFS itself; clinicians may consider in selected vascular lesions. NCBI
2) Timolol ophthalmic (topical) for superficial hemangiomas (off-label)
Class: β-blocker eye drops/gel. Dose/timing: Small topical amounts to lesions (specialist guidance). Purpose: Small superficial hemangiomas. Mechanism: Local β-blockade reduces blood flow/angiogenesis. Side effects: Minimal systemic absorption; watch for local irritation; avoid mucosal ingestion. Use under specialist instruction. NCBI
3) Amoxicillin-clavulanate
Class: β-lactam/β-lactamase inhibitor antibiotic. Dose/timing: Per FDA label (weight-based pediatric dosing). Purpose: Infected branchial cyst/skin or dental infections. Mechanism: Bactericidal cell wall inhibition plus β-lactamase protection. Side effects: GI upset, rash; rare hepatic injury. Cleveland Clinic
4) Cephalexin
Class: First-generation cephalosporin. Use: Skin/soft-tissue infections. Mechanism: Inhibits cell wall synthesis. Side effects: GI upset, allergy. Dosing: As per label by weight/renal function. Cleveland Clinic
5) Clindamycin
Class: Lincosamide antibiotic. Use: Suspected MRSA or penicillin allergy in skin/soft tissue infections. Mechanism: Inhibits bacterial protein synthesis (50S). Side effects: Diarrhea, C. difficile risk. Dosing: Per label. Cleveland Clinic
6) Ciprofloxacin/dexamethasone otic (Ciprodex®)
Class: Fluoroquinolone + corticosteroid ear drops. Use: Otitis externa or otitis media with tympanostomy tubes. Mechanism: Bactericidal DNA gyrase inhibition + local anti-inflammation. Side effects: Local irritation. Dosing: Label-directed drops regimen. Medscape
7) Ofloxacin otic
Class: Fluoroquinolone ear drops. Use: Otorrhea, chronic suppurative otitis media. Mechanism/SE: As above; low ototoxicity risk vs aminoglycosides. Dosing: Label. Medscape
8) Erythromycin ophthalmic ointment
Class: Macrolide antibiotic eye ointment. Use: Superficial ocular infection prophylaxis/treatment. Mechanism: Protein synthesis inhibition (50S). Side effects: Local irritation/blurry vision. Dosing: Label. MedlinePlus
9) Moxifloxacin ophthalmic
Class: Fluoroquinolone eye drops. Use: Bacterial conjunctivitis or corneal infection per ophthalmology. Mechanism: DNA gyrase/topoisomerase inhibition. SE: Local irritation. Dosing: Label. MedlinePlus
10) Acetaminophen
Class: Analgesic/antipyretic. Use: Post-op pain/fever. Mechanism: Central COX inhibition. SE: Hepatotoxic with overdose. Dosing: Strict weight-based dosing per label. Cleveland Clinic
11) Ibuprofen
Class: NSAID. Use: Post-op inflammatory pain. Mechanism: COX-1/COX-2 inhibition. SE: GI upset, renal effects with dehydration. Dosing: Label; avoid pre-op if surgeon advises. Cleveland Clinic
12) Artificial tears/lubricating gels (OTC)
Class: Ocular lubricants. Use: Surface protection in exposure risk or tear-duct issues. Mechanism: Tear film stabilization. SE: Blurring immediately after instillation. Dosing: Per product label; ophthalmology guidance. MedlinePlus
(Because this is a rare malformation syndrome with no disease-specific drug approvals, providing “ drugs” strictly tied to BOFS would be misleading. The examples above illustrate symptom-targeted medications clinicians use; always follow the exact FDA label and your clinician’s advice.) NCBI
Dietary molecular supplements
1) Vitamin D – Supports bone/immune health; helpful if intake or sun exposure is low. Dose: Per age-specific guidelines. Mechanism: Regulates calcium/phosphate and modulates innate/adaptive immunity. MedlinePlus
2) Omega-3 fatty acids (EPA/DHA) – Anti-inflammatory support; may aid skin barrier. Mechanism: Competes with arachidonic acid to produce less-inflammatory eicosanoids. MedlinePlus
3) Vitamin C – Collagen synthesis and wound healing after procedures. Mechanism: Cofactor for prolyl/lysyl hydroxylases, antioxidant. MedlinePlus
4) Zinc – Epithelial repair and immune support. Mechanism: DNA synthesis and keratinocyte function; deficiency impairs healing. MedlinePlus
5) Selenium – Antioxidant via glutathione peroxidases; supports immune balance. MedlinePlus
6) Probiotics – Gut microbiome support during/after antibiotics. Mechanism: Competitive exclusion and immune modulation; product-specific evidence. MedlinePlus
7) Vitamin A (careful with dosing) – Epithelial integrity; excess is toxic. Mechanism: Retinoid-mediated gene expression for keratinization. MedlinePlus
8) B-complex (esp. B12, folate) – Mucosal health and general energy metabolism. MedlinePlus
9) Iron (if deficient) – Supports growth and wound healing; only if labs show deficiency. MedlinePlus
10) Protein supplementation (medical nutrition shakes) – Helps recovery after surgeries when chewing is limited. Mechanism: Provides essential amino acids for collagen and tissue repair. NCBI
Immunity booster / regenerative / stem-cell drugs
There are no approved “stem-cell drugs” or regenerative medicines for BOFS. Experimental stem-cell products marketed for congenital syndromes are unproven and potentially unsafe outside monitored clinical trials. The safest, evidence-based “immunity support” is ensuring vaccinations, adequate nutrition, and prompt infection care. Discuss any clinical-trial options with a genetics center. NCBI
Surgeries (what is done & why)
1) Cleft lip repair (± palate repair)
What: Standard techniques (e.g., Millard/rotation-advancement for lip; palatoplasty for palate) by pediatric craniofacial surgeons. Why: Restore lip seal, feeding, speech potential, and appearance; palate repair supports normal resonance and reduces regurgitation. NCBI
2) Excision of branchial cleft cyst/sinus/fistula
What: Surgical removal of epithelial cyst/tract once infection is controlled. Why: Prevent recurrent infection, abscess, and rare malignant change; resolves drainage and odor. NCBI+1
3) Ear procedures / canaloplasty / hearing rehabilitation
What: Myringotomy with tubes for effusions; canaloplasty for stenosis; later reconstruction if needed. Why: Improve aeration and hearing to protect speech/language. NCBI
4) Ocular procedures & conformer therapy
What: Conformer placement for socket growth; repair of eyelid/tear-duct problems; cataract or other surgeries if indicated. Why: Promote symmetric facial/orbital growth and protect visual function. NCBI
5) Nasal tip/auricular reconstruction & secondary revisions
What: Timed soft-tissue/cartilage shaping and later refinements. Why: Address characteristic nasal tip changes and malformed pinnae to improve function (airflow, device fit) and appearance. NCBI
Preventions
Regular team follow-up to catch ear, eye, dental, and skin issues early. NCBI
Skin protection (sun/friction) to reduce erosion/ulceration. NCBI
Prompt care for infections (neck skin, ear, dental). Cureus
Hearing surveillance with audiograms through childhood. NCBI
Vision checks and early ophthalmology if tearing/redness/photophobia. NCBI
Dental hygiene & fluoride to protect altered anatomy. NCBI
Peri-operative planning (timing/staging with growth). NCBI
Vaccinations per schedule to reduce ENT/skin infection risk. NCBI
Nutrition optimization (adequate protein, micronutrients). NCBI
Genetic counseling for family planning and expectations. MedlinePlus
When to see doctors (red flags)
Spreading redness, warmth, pus, fever on neck lesions (possible infection). Cureus
Breathing noise, choking, or poor feeding/weight gain in infants. NCBI
Persistent ear discharge, pain, or hearing drop. NCBI
Eye pain, sudden redness, light sensitivity, or vision change. NCBI
New or enlarging neck mass (evaluate for cyst or infected sinus). NCBI
Post-operative bleeding, severe pain, or wound opening. NCBI
What to eat & what to avoid
Eat:
Soft, protein-rich foods after oral surgery (eggs, yogurt, blended legumes).
Vitamin-C-rich fruits/veg (oranges, guava, broccoli) for healing.
Zinc & iron sources if diet is low (legumes, lean meats) per clinician advice.
Healthy fats with omega-3s (fish, flax, walnuts).
Plenty of fluids to keep secretions thin and support healing. NCBI
Avoid/Limit:
- Very hard/crispy foods early after lip/palate surgery (chips, crusts).
- Extremely hot or spicy foods that irritate fresh wounds.
- Sticky/sugary snacks that raise caries risk.
- Allergen triggers if the child is known to be atopic.
- Herbal/“immune booster” products not cleared by your clinician (drug interactions). NCBI
FAQs
1) Is “lip pseudocleft–hemangiomatous branchial cyst syndrome” the same as BOFS?
Yes. It’s an older descriptive name for what we now call Branchio-Oculo-Facial Syndrome. PubMed+1
2) What gene is involved?
TFAP2A; it encodes the AP-2α transcription factor important in face/neck development. MedlinePlus
3) How is it inherited?
Usually autosomal dominant with variable features even within a family. MedlinePlus
4) What are typical signs?
Branchial skin lesions (sometimes hemangiomatous), pseudocleft/cleft lip, ear/eye anomalies, and possible renal differences. NCBI
5) How is the diagnosis made?
Clinical features plus genetic testing for TFAP2A variants. MedlinePlus
6) Are there specific medicines that cure it?
No. Care focuses on each problem (skin, ear, eye, lip/palate, dental) with surgery and supportive treatments. NCBI
7) Are branchial cysts dangerous?
They’re usually benign but can get infected; surgical removal prevents recurrences and rare complications. Cleveland Clinic
8) Will my child need multiple surgeries?
Often yes—timed repairs and later refinements coordinated by a craniofacial team. NCBI
9) Can hearing or vision be protected?
Yes—through regular audiology/ophthalmology, amplification, conformers, and visual supports as indicated. NCBI
10) What about speech?
Early speech-language therapy after structural repair helps articulation and resonance. NCBI
11) Is there a risk to future pregnancies?
Autosomal-dominant inheritance means a 50% chance if a parent carries a TFAP2A variant; genetic counseling is recommended. MedlinePlus
12) Are “stem-cell” treatments available?
Not approved for this condition; avoid unregulated offerings outside clinical trials. NCBI
13) What specialists should be involved?
Craniofacial plastic surgery, ENT, ophthalmology, audiology, dentistry/orthodontics, speech-language, pediatrics, genetics, psychology. NCBI
14) Can this affect the kidneys?
Sometimes; baseline renal evaluation is reasonable if your team suspects involvement. MedlinePlus
15) Where can I read more?
See GeneReviews (care guidance), MedlinePlus Genetics (overview), and early case reports that originally used the descriptive name. NCBI+2MedlinePlus+2
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: November 02, 2025.
