Blepharocheilodontic syndrome is a rare genetic condition that is present at birth. It mainly affects the eyelids (blepharo-), the upper lip (-cheilo-), and the teeth (-dontic). The most common features are lower eyelids that turn outward (ectropion), wide lower lids (euryblepharon), eyelids that do not close fully (lagophthalmia), a split in the lip and/or palate (cleft lip and palate), and missing or cone-shaped teeth (oligodontia and conical teeth). It is usually inherited in an autosomal dominant pattern, meaning one changed copy of a gene can cause the syndrome. Variants in two genes—CDH1 (E-cadherin) and CTNND1 (p120-catenin)—are known causes. These genes help cells stick together during early facial, eyelid, and tooth development. When they do not work properly, the eyelids, lip/palate, and teeth may not form in the usual way. PubMed+3MedlinePlus+3NCBI+3
Blepharocheilodontic syndrome (BCDS) is a very rare, inherited disorder present from birth. It mainly affects the eyelids (blepharo-), the upper lip/roof of the mouth (-cheilo-, cleft lip/palate), and the teeth (-dontic). Typical findings include outward-turning lower eyelids (ectropion), difficulty closing the eyes (lagophthalmos), wide eyelid openings (euryblepharon), cleft lip/palate, and missing or cone-shaped teeth (oligodontia). Inheritance is usually autosomal dominant with variable expression. Mutations in CDH1 (E-cadherin) and CTNND1 (p120-catenin)—proteins that help cells stick together during facial development—are the main known genetic causes. PMC+4Genetic Rare Diseases Center+4National Organization for Rare Disorders+4
Blepharocheilodontic syndrome (BCDS) is a rare genetic condition that affects the eyelids, lips, mouth, teeth, and other tissues formed from the ectoderm. People with BCDS often have outward-turning lower eyelids (ectropion), cleft lip and/or cleft palate, missing or small teeth, abnormal tooth enamel, and dry or irritated eyes. Many cases are linked to changes (variants) in the CDH1 or CTNND1 genes, which help cells stick to each other and form healthy tissues. BCDS does not affect intelligence and life span in most cases, but it needs regular medical, dental, eye, and surgical care to prevent complications.
Some people can also have extra eyelashes on the inner surface of the upper lids (distichiasis). Less often, there may be problems like imperforate anus or spine differences. The severity and exact combination of features can vary from person to person, even in the same family. MedlinePlus+2Genetic Rare Diseases Center+2
Other names
BCD syndrome
Blepharo-cheilo-dontic (or odontic) syndrome
Blepharocheilodontic syndrome 1 (BCDS1) – when due to CDH1 variants
Blepharocheilodontic syndrome 2 (BCDS2) – when due to CTNND1 variants
These labels refer to the same clinical picture, and the numbered terms reflect the gene involved. National Organization for Rare Disorders+1
Types
You can think of BCD syndrome in two genetic subtypes:
Type 1 (BCDS1) – caused by changes in CDH1. E-cadherin helps cells adhere to each other. Reduced function can disturb the shaping of eyelids, lip/palate, and teeth. Nature
Type 2 (BCDS2) – caused by changes in CTNND1. p120-catenin interacts with E-cadherin. Faults in this partner protein can create a similar pattern of features. PubMed
Both types share very similar signs. The subtype is confirmed by genetic testing. NCBI
Causes
Because BCD syndrome is genetic, “causes” here focus on the ways the two genes can be altered and the biological pathways they disturb.
Pathogenic variants in CDH1 – the most frequent known cause; the change reduces E-cadherin function. Nature
Pathogenic variants in CTNND1 – changes in p120-catenin disrupt its partnership with E-cadherin. PubMed
Loss-of-function variants – nonsense, frameshift, or splice changes that lead to little or no protein. Nature
Missense variants – a single amino-acid change that weakens how the protein works or binds partners. PubMed
Gene deletions/duplications – larger missing or extra pieces of CDH1 or CTNND1 can disturb dosage. NCBI
Dominant inheritance – one altered copy is enough to cause the syndrome in a child of an affected parent. NCBI
De novo variants – brand-new changes that start in the child; parents are unaffected. Nature
Haploinsufficiency – having only one working copy of the gene does not provide enough function. Nature
Disrupted E-cadherin–catenin complex – the cell-to-cell “adhesion belt” becomes weak, altering tissue shaping. PubMed
Faulty epithelial sheet movement – facial and eyelid tissues cannot fuse or fold normally in the embryo. PubMed
Abnormal craniofacial patterning signals – cell-adhesion defects can secondarily change key growth signals. PubMed
Maldevelopment of eyelid margin – leads to ectropion, euryblepharon, and incomplete closure. MedlinePlus
Impaired tooth germ formation – causes oligodontia (fewer teeth) and conical tooth shape. PubMed
Failed fusion of lip and palate shelves – produces cleft lip and/or palate. Orpha
Variable expressivity – the same variant can cause different signs in different people. NCBI
Reduced penetrance in some families – some carriers may show mild or no features. NCBI
Genetic modifiers – other genes may influence severity of eyelid, lip, or dental findings. PubMed
Mosaicism (rare) – the variant may be present in some cells only, changing the pattern of features. Nature
Pathway-level defects – any disruption of the E-cadherin pathway can mimic BCD features. PubMed
Occasional syndromic associations – very rare reports of anorectal or spinal anomalies suggest early developmental disruption beyond the face. NCBI
Symptoms and signs
Lower eyelid ectropion – the inner surface of the lower lid turns outward, causing irritation and tearing. MedlinePlus
Euryblepharon – the lower eyelid looks long and loose, with a wide opening. MedlinePlus
Lagophthalmia – the eyelids do not close fully, especially during sleep, leading to dry, exposed eyes. MedlinePlus
Distichiasis – an extra row of lashes from the upper lid’s inner lining; these can rub on the eye. MedlinePlus
Cleft lip and/or cleft palate – a split in the upper lip and/or the roof of the mouth present at birth. Orpha
Oligodontia – fewer teeth than normal; gaps may be large and permanent teeth may be missing. PubMed
Conical or peg-shaped teeth – teeth may look narrow or pointed. NCBI
Enamel defects – enamel may be thin or pitted, raising the risk of cavities and sensitivity. PubMed
Dry eye, irritation, or light sensitivity – from exposure due to ectropion or incomplete eye closure. disorders.eyes.arizona.edu
Blocked or absent tear ducts – watering eyes or recurrent infections can occur. MedlinePlus
Speech and feeding difficulties – related to cleft palate; nasal speech or milk coming through the nose in infants. Genetic Rare Diseases Center
Recurrent ear infections or hearing issues – due to middle-ear fluid with cleft palate. Genetic Rare Diseases Center
Facial differences – wide-set eyes (hypertelorism) and broad nasal root are reported in some people. disorders.eyes.arizona.edu
Rare limb or spine differences – such as limb reduction defects or spina bifida in isolated reports. Genetic Rare Diseases Center
Anorectal anomaly (very rare) – imperforate anus has been described in a few cases. NCBI
Diagnostic tests
A) Physical examination (bedside, no machines)
Newborn and eye exam – a clinician looks for ectropion, euryblepharon, incomplete closure, and extra lashes. This first look guides all later testing. MedlinePlus
Oral and palate exam – the team checks for cleft lip/palate, high arch, and feeding challenges. Early detection speeds feeding support. Orpha
Dental count and shape survey – a dentist counts teeth and notes conical shapes or enamel defects to plan care. PubMed
Family history and inheritance review – mapping affected relatives helps confirm autosomal dominant transmission. NCBI
Whole-body check for rare features – exam for limb, spine, or anorectal anomalies sometimes associated with BCD. Genetic Rare Diseases Center+1
B) Manual or clinical office tests (basic tools in clinic)
Eyelid laxity and distraction test – the clinician gently pulls the lid to assess looseness and exposure risk in ectropion/euryblepharon. disorders.eyes.arizona.edu
Fluorescein staining with slit-lamp – a dye highlights dry spots or scratches from exposure or extra lashes. It guides lubrication and lash management. disorders.eyes.arizona.edu
Schirmer tear test – measures tear production to help manage dry eye symptoms. disorders.eyes.arizona.edu
Nasal endoscopy for cleft-related issues – evaluates palate function and eustachian tube opening in speech and ear problems. Genetic Rare Diseases Center
Feeding assessment – therapists check suck-swallow coordination and advise special bottles for infants with cleft palate. Genetic Rare Diseases Center
C) Laboratory and pathological tests
Targeted genetic testing of CDH1 – looks for disease-causing variants to confirm BCDS1; helps with family counseling. NCBI
Targeted genetic testing of CTNND1 – confirms BCDS2 when CDH1 is negative but BCD features are present. PubMed
Multigene craniofacial/ectodermal panel – screens CDH1, CTNND1 and related genes in one test when the diagnosis is uncertain. NCBI
Chromosomal microarray / deletion-duplication analysis – detects larger missing or extra pieces that involve these genes. NCBI
Family (segregation) studies – check whether the variant tracks with affected family members to support causality. NCBI
D) Electrodiagnostic tests (used selectively)
Electrodiagnostic blink-reflex or facial EMG (rare) – if eyelid closure weakness is suspected, these tests can assess orbicularis function; usually normal in BCD but can help rule out nerve problems. disorders.eyes.arizona.edu
Auditory brainstem response (ABR) in infants with cleft palate – electrodes measure hearing pathway responses when middle-ear fluid or hearing questions arise. Genetic Rare Diseases Center
E) Imaging tests
Panoramic dental X-ray (OPG) – shows missing teeth, tooth buds, and roots to plan dental rehabilitation. PubMed
Cephalometric X-rays / 3-D facial CT – map facial bones and palate for cleft repair and orthodontic planning. Use CT when detailed bony planning is needed. Wiley Online Library
Anterior segment OCT or high-resolution eyelid imaging – documents exposure damage and guides eyelid surgery timing. disorders.eyes.arizona.edu
Non-pharmacological treatments (therapies and others)
1) Coordinated craniofacial team care
A craniofacial team brings together surgeons, orthodontists, speech-language pathologists, pediatric dentists, ophthalmologists, and genetic counselors. Regular team visits create one plan for surgery, eye care, speech, teeth, and growth. Families get counseling and clear timelines. This reduces duplicated tests and missed problems. It also improves surgery timing (lip and palate), protects eye health, and helps with school and social needs.
Purpose: One roadmap for care.
Mechanism: Multidisciplinary evaluation and staged interventions across childhood.
References: ACPA team-care guidelines; Orphanet BCDS overview.
2) Genetic counseling
A genetics professional explains inheritance, testing options, and family risks. Counseling helps parents understand why BCDS happened, what to expect, and options for future pregnancies. It also clarifies that new (de novo) variants can occur without family history.
Purpose: Informed decisions and family planning.
Mechanism: Pedigree review, risk calculation, discussion of testing (CDH1/CTNND1), and support.
References: MedlinePlus Genetics; Orphanet; ACMG counseling principles.
3) Pre-surgical feeding support (cleft lip/palate)
Infants with cleft palate may struggle to create suction. Special bottles, nipples, and positioning improve milk flow and reduce choking. Lactation specialists and speech-language pathologists teach safe feeding. Early weight gain supports safer anesthesia and surgery.
Purpose: Adequate nutrition and growth before repair.
Mechanism: Adaptive feeding equipment and paced feeding strategies.
References: ACPA feeding guidance; pediatric cleft care manuals.
4) Nasoalveolar molding (NAM)
NAM is a custom plate (with/without nasal stents) fitted by specialists in early infancy. It gently guides the gum segments and nasal cartilage toward better alignment before lip repair, which may improve surgical results and reduce later revisions.
Purpose: Improve symmetry and surgical outcomes.
Mechanism: Gradual orthopedic molding of soft cartilage and alveolar segments.
References: ACPA pre-surgical orthopedics; craniofacial orthodontic literature.
5) Palatal obturator for early feeding and speech
A palatal obturator is a removable plate that closes the gap in the palate before definitive surgery. It reduces nasal regurgitation, supports early babbling, and often makes feeding easier.
Purpose: Temporary closure to aid feeding and early sound production.
Mechanism: Mechanical separation of oral and nasal cavities.
References: ACPA obturator guidance; speech-language pathology resources.
6) Speech-language therapy
Children with cleft palate may develop hypernasal speech and articulation errors. Early therapy after palate repair helps correct airflow and sound placement and monitors for velopharyngeal insufficiency (VPI) that might need further surgery.
Purpose: Clearer speech and communication.
Mechanism: Targeted exercises for resonance and articulation with home practice.
References: ACPA speech care protocols; pediatric SLP guidelines.
7) Eyelid hygiene and warm compresses
Ectropion exposes the ocular surface and can cause dryness and irritation. Gentle daily lid cleaning and warm compresses reduce crusting, support oil gland function, and improve comfort, especially before any reconstructive eyelid surgery.
Purpose: Protect the eye surface and reduce irritation.
Mechanism: Debris removal and improved meibomian secretion.
References: American Academy of Ophthalmology (AAO) blepharitis/eyelid care guidance.
8) Daytime ocular surface protection
Moisture chamber glasses, frequent preservative-free artificial tears, and avoiding smoky or windy environments help keep the cornea safe. Lubrication is essential when lids do not close fully.
Purpose: Maintain tear film and prevent corneal damage.
Mechanism: Physical barrier and tear replacement.
References: AAO dry-eye care concepts; Orphanet BCDS ocular notes.
9) Nighttime eye protection
People with lagophthalmos (incomplete eyelid closure) benefit from ointment at bedtime and gentle eyelid taping or sleep masks to prevent exposure keratopathy.
Purpose: Prevent overnight corneal drying.
Mechanism: Occlusion and thicker lubrication during sleep.
References: AAO recommendations for nocturnal exposure management.
10) UV and injury protection for eyes and scars
Sunglasses with UV protection and protective eyewear during sports reduce photophobia and injury risk. Sunscreen and scar silicone gel help maturing scars after surgery.
Purpose: Reduce inflammation and optimize scar appearance.
Mechanism: UV blocking and silicone occlusive therapy.
References: AAO eye protection advice; postoperative scar care consensus.
11) Preventive pediatric dentistry
Early and regular dental visits, professional fluoride varnish, sealants on susceptible teeth, and coaching on brushing/flossing counter enamel hypoplasia and missing teeth.
Purpose: Reduce cavities and protect weak enamel.
Mechanism: Remineralization and physical seal of pits/fissures.
References: American Academy of Pediatric Dentistry (AAPD) guidelines.
12) Orthodontic guidance and growth monitoring
Jaw growth and tooth eruption can be atypical in BCDS. Early interceptive orthodontics can guide occlusion, prepare for bone grafting, and plan for implants in later teens or adulthood.
Purpose: Functional bite and space planning for prosthetics.
Mechanism: Growth-modifying appliances and staged orthodontics.
References: AAPD & orthodontic consensus statements; craniofacial orthodontics texts.
13) Oral prosthetics (partial dentures/implants later)
When teeth are missing, temporary partial dentures improve chewing and speech in childhood. In adolescence or adulthood, dental implants may be considered after bone grafting.
Purpose: Restore function and aesthetics.
Mechanism: Removable prostheses early; implants after growth.
References: AAPD prosthodontic care; implant dentistry in cleft patients literature.
14) Nutrition counseling
Soft, nutrient-dense foods help after oral surgery. Long term, a balanced diet with adequate protein, vitamins A/C/D, calcium, and omega-3 supports wound healing, oral tissues, and general health.
Purpose: Adequate calories for growth and recovery.
Mechanism: Optimized macro-/micronutrients and texture modification.
References: Pediatric nutrition and postoperative diet guidance; AAPD diet advice.
15) Psychosocial support and peer groups
Visible facial differences can affect self-esteem. Counseling, school advocacy, and family support groups reduce anxiety and improve quality of life.
Purpose: Emotional resilience and social participation.
Mechanism: Cognitive-behavioral strategies and community connection.
References: ACPA psychosocial care framework; pediatric psychology literature.
16) Perioperative airway and sleep assessment
Cleft and craniofacial differences can impact airway. Screening for obstructive sleep apnea and careful anesthesia planning improve safety around surgeries.
Purpose: Reduce respiratory complications.
Mechanism: Preoperative evaluation, sleep studies when indicated, skilled anesthesia.
References: Pediatric anesthesia guidelines; craniofacial airway studies.
17) Hearing surveillance
Middle ear effusions are common in cleft conditions. Regular hearing checks and ENT care (e.g., tympanostomy tubes when indicated) protect language development.
Purpose: Preserve hearing and speech milestones.
Mechanism: Early detection and ventilation of middle ear.
References: ACPA/ENT cleft care protocols.
18) Scar massage and silicone therapy
After lip repair, guided scar massage and silicone gel/sheets help soften and flatten scars over months.
Purpose: Improve scar texture and appearance.
Mechanism: Mechanical remodeling and hydration/occlusion effects.
References: Post-scar management reviews; surgical aftercare guidance.
19) Humidification
Room humidifiers decrease eye and mucosal dryness in arid seasons, aiding comfort in people with eyelid malposition.
Purpose: Reduce evaporative loss.
Mechanism: Higher ambient humidity supports tear film stability.
References: AAO dry-eye environment tips; patient comfort studies.
20) School and therapy coordination
An individualized education plan (IEP) may include speech therapy minutes, hearing accommodations, and post-surgery attendance flexibility.
Purpose: Keep learning on track.
Mechanism: Formal school supports and health-education communication.
References: ACPA educational advocacy recommendations.
Drug treatments
Important: These medicines treat symptoms or complications common in BCDS (dry eye, infection risk, pain, oral health). They are not BCDS-specific therapies. Always follow your clinician’s advice for age, dosing, and safety.
1) Cyclosporine ophthalmic emulsion 0.05% (e.g., Restasis)
This prescription eye drop increases natural tear production in some people with dry eye due to reduced tear production. In eyelid malposition, it can help stabilize the surface when used with lubrication.
Drug class: Calcineurin inhibitor (topical).
Dosage/Time: Typically 1 drop in each eye twice daily; onset may take weeks.
Purpose: Improve tear production and comfort.
Mechanism: Reduces ocular surface inflammation to restore tear gland function.
Side effects: Burning on instillation, redness, temporary blurred vision.
References: FDA label—accessdata.fda.gov.
2) Lifitegrast ophthalmic solution 5% (e.g., Xiidra)
Lifitegrast treats signs and symptoms of dry eye disease by blocking LFA-1/ICAM-1 interactions that drive inflammation. Helpful adjunct in exposure-related dryness.
Class: LFA-1 antagonist (topical).
Dosage/Time: 1 drop in each eye twice daily.
Purpose: Reduce dry-eye symptoms and staining.
Mechanism: Anti-inflammatory blockade of T-cell adhesion.
Side effects: Dysgeusia (unusual taste), irritation, transient blur.
References: FDA label—accessdata.fda.gov.
3) Erythromycin ophthalmic ointment
Antibiotic ointment protects the cornea and lids when exposure raises infection risk. It also doubles as a nighttime lubricant in lagophthalmos.
Class: Macrolide antibiotic (topical).
Dosage/Time: Thin ribbon to eyelid margins/eye at bedtime (per clinician).
Purpose: Reduce bacterial load and protect surface.
Mechanism: Protein synthesis inhibition in bacteria; ointment barrier.
Side effects: Temporary blur, rare hypersensitivity.
References: FDA label—accessdata.fda.gov.
4) Loteprednol etabonate ophthalmic (various strengths)
Short courses can calm ocular surface inflammation unresponsive to lubricants.
Class: Topical corticosteroid.
Dosage/Time: As prescribed; tapered over days–weeks.
Purpose: Rapid control of inflammation.
Mechanism: Inhibits inflammatory cascades locally.
Side effects: Elevated intraocular pressure, cataract risk with chronic use; needs monitoring.
References: FDA label—accessdata.fda.gov.
5) Olopatadine ophthalmic (e.g., 0.1–0.7%)
For allergic components causing itch that worsen eye rubbing and exposure symptoms.
Class: Antihistamine/mast-cell stabilizer.
Dosage/Time: 1 drop once or twice daily (per product).
Purpose: Reduce itch and hyperemia.
Mechanism: Blocks H1 receptors and stabilizes mast cells.
Side effects: Mild irritation; rare headache.
References: FDA label—accessdata.fda.gov.
6) Acetaminophen (paracetamol)
Useful after surgeries (lip/palate/eyelid) and for dental pain, following pediatric or adult dosing.
Class: Analgesic/antipyretic.
Dosage/Time: Weight-based in children; max daily dose limits to avoid liver toxicity.
Purpose: Pain and fever relief.
Mechanism: Central prostaglandin pathway modulation.
Side effects: Hepatotoxicity with overdose; check all combo products.
References: FDA label—accessdata.fda.gov.
7) Ibuprofen
Commonly used for postoperative discomfort and dental pain when not contraindicated.
Class: NSAID.
Dosage/Time: Weight-based in children; with food as advised.
Purpose: Pain and inflammation control.
Mechanism: COX inhibition reduces prostaglandins.
Side effects: GI upset, renal risk with dehydration; avoid before surgery if directed.
References: FDA label—accessdata.fda.gov.
8) Amoxicillin
Used for acute bacterial infections (e.g., otitis media in cleft-related eustachian dysfunction) as clinically indicated.
Class: Beta-lactam antibiotic.
Dosage/Time: Weight-based; full course completion.
Purpose: Treat susceptible bacterial infections.
Mechanism: Inhibits bacterial cell wall synthesis.
Side effects: Rash, diarrhea; rare allergy.
References: FDA label—accessdata.fda.gov.
9) Amoxicillin-clavulanate
Broader coverage when beta-lactamase producers suspected (e.g., sinusitis).
Class: Penicillin + beta-lactamase inhibitor.
Dosage/Time: Weight-based; take with food.
Purpose: Treat resistant infections.
Mechanism: Cell wall inhibition + enzyme blockade.
Side effects: GI upset, diarrhea; allergy risk.
References: FDA label—accessdata.fda.gov.
10) Clindamycin
Alternative for penicillin-allergic patients for skin/soft tissue or dental infections per culture/clinical judgment.
Class: Lincosamide antibiotic.
Dosage/Time: Weight-based; complete course.
Purpose: Cover Gram-positive/anaerobes.
Mechanism: Inhibits protein synthesis (50S).
Side effects: Diarrhea; C. difficile risk—report severe symptoms.
References: FDA label—accessdata.fda.gov.
11) Mupirocin 2% ointment
Topical antibiotic for superficial skin infections around surgical sites or irritated eyelids/cheeks.
Class: Isoleucyl-tRNA synthetase inhibitor.
Dosage/Time: Thin layer 2–3×/day as directed.
Purpose: Localized impetigo/abrasions.
Mechanism: Blocks bacterial protein synthesis.
Side effects: Local irritation; rare allergy.
References: FDA label—accessdata.fda.gov.
12) Triamcinolone acetonide dental paste (Kenalog in Orabase)
Helps painful aphthous-like oral ulcers or inflamed mucosa after dental adjustments.
Class: Topical corticosteroid (oral).
Dosage/Time: Thin film to lesion 2–4×/day.
Purpose: Reduce oral inflammation and pain.
Mechanism: Local anti-inflammatory effect.
Side effects: Local irritation; avoid chronic widespread use.
References: FDA label—accessdata.fda.gov.
13) Chlorhexidine gluconate 0.12% oral rinse
Short-term antimicrobial rinse supports plaque control when brushing is difficult after surgeries or during orthodontics.
Class: Antiseptic.
Dosage/Time: Rinse 15 ml for 30 seconds 2×/day (do not swallow), limited duration.
Purpose: Reduce oral bacterial load.
Mechanism: Disrupts bacterial cell membranes.
Side effects: Tooth staining with prolonged use, taste changes.
References: FDA label—accessdata.fda.gov.
14) Sodium fluoride (Rx strength gels/tablets/drops)
Fluoride strengthens enamel prone to decay in BCDS. Dentists select appropriate form and dosage by age and water-fluoride level.
Class: Topical/systemic fluoride.
Dosage/Time: Per pediatric dental guidance.
Purpose: Caries prevention and enamel remineralization.
Mechanism: Promotes fluorapatite formation; inhibits demineralization.
Side effects: Dental fluorosis risk with overdose in young children; store safely.
References: FDA listings—accessdata.fda.gov; AAPD fluoride guidance.
15) Doxycycline (teens/adults as appropriate)
Low-dose regimens can modulate ocular surface inflammation/meibomian gland function in select patients; not for young children.
Class: Tetracycline antibiotic/anti-inflammatory dosing.
Dosage/Time: Low-dose anti-inflammatory courses as prescribed.
Purpose: Support meibomian gland dysfunction control.
Mechanism: MMP inhibition and anti-inflammatory effects.
Side effects: Photosensitivity, GI upset; teeth discoloration risk—avoid in younger children.
References: FDA label—accessdata.fda.gov; AAO MGD reviews.
16) Tacrolimus 0.03–0.1% ointment (skin around lids/face, off-label zones per clinician)
For eczematous periocular skin without steroid atrophy risks of long-term topical steroids.
Class: Calcineurin inhibitor (topical).
Dosage/Time: Thin layer 2×/day, then taper.
Purpose: Control dermatitis that worsens eye rubbing.
Mechanism: Local T-cell suppression reduces inflammation.
Side effects: Burning; sun protection needed.
References: FDA label—accessdata.fda.gov.
17) Hypertonic saline 5% ophthalmic ointment/solution
May help corneal edema in exposure settings per ophthalmology guidance.
Class: Hypertonic ocular agent.
Dosage/Time: As prescribed.
Purpose: Draw fluid from cornea; improve vision comfort.
Mechanism: Osmotic gradient.
Side effects: Stinging.
References: FDA listings—accessdata.fda.gov; AAO corneal edema care.
18) Povidone-iodine 5% ophthalmic (perioperative antisepsis)
Used by surgeons for ocular surface antisepsis before procedures to reduce infection risk.
Class: Antiseptic.
Dosage/Time: Single pre-procedure application.
Purpose: Lower postoperative infection risk.
Mechanism: Broad antimicrobial oxidation.
Side effects: Transient irritation.
References: FDA product listings—accessdata.fda.gov; surgical antisepsis standards.
19) Lidocaine (topical/locally injected by clinicians)
Local anesthesia for suturing and surgical procedures around lip/eyelid/oral areas.
Class: Local anesthetic.
Dosage/Time: Procedure-specific dosing by professionals.
Purpose: Pain control during procedures.
Mechanism: Sodium channel blockade.
Side effects: Dose-related toxicity if misused; professionals only.
References: FDA label—accessdata.fda.gov.
20) Ondansetron
Controls postoperative nausea/vomiting after cleft or eyelid surgery.
Class: 5-HT3 antagonist.
Dosage/Time: Weight-based pediatric or adult dosing.
Purpose: Reduce nausea, support hydration and healing.
Mechanism: Blocks serotonin receptors in gut/CNS.
Side effects: Headache, constipation; rare QT prolongation.
References: FDA label—accessdata.fda.gov.
Dietary molecular supplements
1) Omega-3 fatty acids (EPA/DHA)
Omega-3s can support tear film stability and reduce ocular surface inflammation, and they aid general cardiovascular health. Typical adult ranges are 1–2 g/day of combined EPA/DHA; pediatric dosing is lower and clinician-guided. Quality-controlled products reduce oxidation and aftertaste.
Dosage: Per clinician (often 500–2000 mg/day EPA+DHA adults).
Function: Anti-inflammatory support; meibomian gland function.
Mechanism: Eicosanoid pathway modulation and membrane effects.
References: AAO dry-eye guidance; nutrition reviews.
2) Vitamin D
Vitamin D supports bone, tooth mineralization, and immune function. Deficiency is common and correctable with safe dosing.
Dosage: Per labs/age (e.g., 600–1000 IU/day adults unless otherwise directed).
Function: Calcium/phosphate balance; immune modulation.
Mechanism: Nuclear receptor–mediated gene regulation.
References: Endocrine Society vitamin D guideline; AAPD mineralization notes.
3) Vitamin A (with caution)
Vitamin A supports epithelial integrity (cornea/skin). Excess can be toxic, especially in children and pregnancy.
Dosage: Only per clinician; avoid megadoses.
Function: Epithelial health and vision cycle.
Mechanism: Retinoid-receptor–mediated gene expression.
References: WHO/NIH vitamin A safety; ophthalmology nutrition texts.
4) Vitamin C
Supports collagen formation and wound healing after surgeries.
Dosage: Typical diet meets needs; short-term 250–500 mg/day post-op if advised.
Function: Collagen synthesis cofactor; antioxidant.
Mechanism: Prolyl/lysyl hydroxylase cofactor; ROS scavenging.
References: Surgical nutrition guidance; NIH fact sheets.
5) Zinc
Zinc assists wound healing and immune function.
Dosage: Age-appropriate RDA; avoid long-term high doses.
Function: Enzyme/cofactor for tissue repair.
Mechanism: DNA/RNA synthesis and immune modulation.
References: NIH zinc fact sheet; wound-healing reviews.
6) Calcium with phosphorus (diet first)
Adequate intake supports developing bones/teeth, especially when enamel is thin.
Dosage: Age-appropriate RDA; supplements only if diet is low.
Function: Mineralization of teeth/bone.
Mechanism: Hydroxyapatite formation.
References: AAPD nutrition; NIH calcium guidance.
7) Probiotics (selected strains)
May support oral and gut microbiome balance during/after antibiotic courses.
Dosage: Product/strain-specific; separate from antibiotics.
Function: Reduce antibiotic-associated diarrhea; possibly plaque levels.
Mechanism: Competitive exclusion and immune signaling.
References: Pediatric probiotic consensus statements; dental microbiome studies.
8) Collagen peptides (adjunct)
Some patients use collagen peptides to support soft-tissue recovery after surgery; human evidence is modest.
Dosage: 5–10 g/day typical in studies.
Function: Building blocks for collagen.
Mechanism: Peptide fragments may signal fibroblasts.
References: Perioperative nutrition reviews.
9) B-complex vitamins
B-vitamins support energy metabolism and mucosal health. Deficiency can worsen mouth sores and fatigue.
Dosage: RDA-based; targeted supplementation if labs show deficiency.
Function: Coenzymes for tissue repair.
Mechanism: Enzymatic cofactor roles.
References: NIH B-vitamin fact sheets; oral mucosa literature.
10) L-lysine
Some use lysine to reduce frequency of aphthous-like ulcers; evidence is mixed but safety at dietary doses is good.
Dosage: Diet-based; supplement only if clinician agrees (e.g., 500–1000 mg/day short term).
Function: Collagen cross-linking support.
Mechanism: Substrate for collagen and possible antiviral effects.
References: Oral ulcer management reviews; nutrition texts.
Immunity booster / Regenerative / Stem-cell drugs
There are no approved “immunity booster,” regenerative, or stem-cell drugs for BCDS. Offering such products for this syndrome is unproven and can be unsafe or fraudulent. Evidence-based ways to protect health include routine vaccinations, good sleep, balanced nutrition, dental/eye hygiene, and prompt treatment of infections and surgical needs. If you see clinics advertising stem-cell cures for BCDS, discuss with your specialist and avoid unregulated interventions.
References: FDA consumer alerts on unapproved stem-cell products; Orphanet BCDS overview; ACPA care framework.
Surgeries
1) Cleft lip repair (cheiloplasty)
Surgeons repair the split in the lip, typically in early months of life. Repair restores muscle continuity for feeding, facial expression, and appearance.
Why: Function, speech development support, aesthetics, and psychosocial health.
References: ACPA surgical timing; pediatric plastic surgery texts.
2) Cleft palate repair (palatoplasty)
Palate surgery separates the mouth and nose to improve feeding, reduce ear infections, and support normal speech.
Why: Reduce nasal regurgitation; enable normal resonance; protect ears.
References: ACPA palatoplasty guidance; ENT/SLP literature.
3) Eyelid reconstruction for ectropion/lagophthalmos
Procedures (e.g., lateral canthoplasty, skin grafts, tightening) protect the cornea, improve lubrication, and reduce irritation.
Why: Prevent exposure keratopathy and vision loss.
References: Oculoplastic surgery texts; AAO recommendations.
4) Alveolar bone grafting
Bone graft fills the cleft in the gum ridge to support tooth eruption and later implants.
Why: Dental arch stability and implant readiness.
References: Craniofacial orthodontics literature; ACPA protocols.
5) Secondary speech surgery (for VPI when needed)
If airflow still escapes into the nose after palatoplasty, surgery (e.g., pharyngeal flap) can improve speech.
Why: Correct velopharyngeal insufficiency and improve speech intelligibility.
References: ACPA VPI management; SLP outcomes research.
Preventions
Regular craniofacial team visits to catch issues early.
References: ACPA care model.Daily eyelid/eye lubrication to protect the cornea in ectropion.
References: AAO dry-eye/exposure guidance.Sunglasses and eye shields during outdoor play/sports.
References: AAO injury prevention.Early dental home by age 1 and 3–6-month recalls.
References: AAPD periodicity schedule.Professional fluoride & sealants on at-risk teeth.
References: AAPD caries prevention.Nutrition and hydration to support healing after procedures.
References: Pediatric nutrition guidance.Hearing checks and ENT follow-up for ear effusions.
References: ENT/cleft protocols.Speech-language therapy soon after palate repair.
References: ACPA speech care.Vaccinations up to date to lower infection severity.
References: CDC immunization schedule.Sun/scar care with sunscreen and silicone per surgeon.
References: Post-scar management reviews.
When to see doctors
See your team urgently for eye pain, light sensitivity, sudden redness, a feeling of something in the eye, or vision changes, because the cornea may be drying or scratched. Seek care for feeding problems, poor weight gain, or choking in infants. Call the surgeon for fever, increasing wound redness, or drainage after operations. Schedule visits for new speech concerns, frequent ear infections, dental pain, gum swelling, or broken appliances. Ask for genetics follow-up if there are newly affected relatives or questions about future pregnancies.
References: AAO red-flag eye symptoms; ACPA postoperative and feeding guidance; AAPD dental urgency cues.
What to eat and what to avoid
Soft, high-protein meals after surgeries (eggs, yogurt, lentils) to protect sutures and support healing.
References: Post-op nutrition guides.Plenty of water to support tear film and oral moisture.
References: AAO dry-eye comfort tips.Colorful fruits/vegetables for vitamins A/C/K and antioxidants.
References: Pediatric diet guidance.Calcium-rich foods (dairy, fortified alternatives, small fish with bones) for teeth/bone health.
References: AAPD diet advice.Omega-3 sources (fatty fish, flax, walnuts) for ocular surface support.
References: Nutrition and dry-eye reviews.Limit sticky sweets and sipping sugar drinks that raise cavity risk with enamel defects.
References: AAPD caries prevention.Avoid sharp, hard foods soon after oral surgery (chips, nuts) to protect incisions.
References: Post-operative dental care.Moderate very spicy/acidic foods if mouth sores are present.
References: Oral ulcer self-care guidance.Time milk/formula feeds carefully with obturators/bottles to prevent choking.
References: ACPA feeding literature.Discuss supplements (vitamin D, fluoride) with the care team before starting.
References: AAPD fluoride; Endocrine Society vitamin D guideline.
Frequently asked questions (FAQs)
1) Is BCDS life-threatening?
Most children grow and live normal lifespans with proper care. The main risks are eye injury from exposure and feeding/speech issues from clefting, which are manageable with team care.
References: Orphanet; ACPA care overview.
2) What causes BCDS?
Changes in CDH1 or CTNND1 genes disrupt cell adhesion, affecting eyelids, lips, palate, and teeth formation.
References: MedlinePlus Genetics; Orphanet.
3) Can BCDS be cured?
There is no cure yet, but surgeries, eye protection, dental care, and therapies correct function and appearance and prevent damage.
References: ACPA protocols; AAO ocular care.
4) Will my child need many surgeries?
Often yes, in a planned sequence (lip, palate, possible eyelid procedures, bone graft, orthodontics). Plans are individualized.
References: ACPA surgical sequencing.
5) Is vision at risk?
Yes, if the cornea dries or is injured from eyelid malposition. Lubrication and eyelid procedures protect sight.
References: AAO exposure keratopathy guidance.
6) How often should we see the dentist?
Usually every 3–6 months, earlier and more often than average because enamel may be weak or teeth missing.
References: AAPD recall schedule.
7) Are there medicines just for BCDS?
No. Medicines treat symptoms (dry eye, infection, pain). There are no FDA-approved drugs specific to BCDS.
References: FDA database; Orphanet.
8) Is orthodontic treatment guaranteed?
Most patients need orthodontics; timing depends on growth, tooth eruption, and surgery plans.
References: Craniofacial orthodontic guidance.
9) Can implants be done?
Yes, often after bone grafting and once facial growth is complete.
References: Implant dentistry in cleft care literature.
10) Will speech be normal?
With palate repair and therapy, many children achieve clear speech. Some need additional procedures for VPI.
References: ACPA speech guidelines.
11) Is BCDS inherited?
It can be autosomal dominant (one altered gene copy is enough). New variants can also occur. Family-specific risk is explained in genetic counseling.
References: MedlinePlus Genetics; ACMG counseling principles.
12) What about school and social life?
With early therapy, accommodations, and psychosocial support, children do well in school and activities.
References: ACPA psychosocial framework.
13) Are “stem-cell cures” real?
No approved stem-cell treatments exist for BCDS. Avoid unproven therapies.
References: FDA safety communications on unapproved stem-cell products.
14) How do we protect hearing and speech?
Regular hearing checks, ENT care, and SLP therapy maintain language development.
References: ENT/ACPA cleft care.
15) What is the long-term outlook?
With comprehensive team care, most individuals have good function, protected vision, improved appearance, and strong quality of life.
References: Orphanet; ACPA outcome summaries.
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: October 27, 2025.
