Blepharo-Cheilo-Odontic Syndrome

Blepharo-cheilo-odontic syndrome is a rare genetic condition that affects the eyelids, upper lip, and teeth. “Blepharo” means eyelid, “cheilo” means lip, and “odontic” means teeth. Babies are born with it. Typical signs include outward-turning lower eyelids (ectropion), wide or sagging eyelid openings, cleft lip with or without cleft palate, and missing or cone-shaped teeth. It is usually inherited in an autosomal dominant pattern (one changed copy of the gene is enough), but many cases are new (de novo). Variants in the CDH1 gene and the CTNND1 gene—both part of the cadherin-catenin (cell adhesion) pathway—are the known genetic causes. PMC+3MedlinePlus+3Orpha+3

Blepharo-cheilo-odontic syndrome is a rare, usually autosomal-dominant condition present at birth that primarily affects the eyelids (often lower-lid ectropion, upper-lid distichiasis, euryblepharon), the upper lip (cleft lip with or without cleft palate), and the teeth (hypodontia/oligodontia, small conical teeth). Other reported features include lagophthalmos (cannot fully close eyelids), sparse hair/nails, and occasionally limb, anal, or thyroid anomalies. Because eyelid malposition can dry and injure the cornea, early eye protection and staged cleft care are central. The condition overlaps ectodermal dysplasia phenotypes. Orpha+2Genetic Rare Diseases Center+2

Genetics (simple): Most families show dominant inheritance; recent studies implicate the CDH1 pathway in at least one subtype (“blepharocheilodontic syndrome 1”), while overall BCD is considered a distinct entity from, but clinically overlapping with, IRF6-related clefting syndromes. Genetic confirmation helps counseling, but negative testing does not exclude the clinical diagnosis; management remains phenotype-driven. Nature+2Monarch Initiative+2

Other names

This condition appears in clinics and papers under a few names. You might see Blepharocheilodontic syndrome, Blepharo-cheilo-odontic syndrome, BCD syndrome, BCDS, BCDS1 (CDH1-related), and BCDS2 (CTNND1-related). Some sources also call it eyelid-lip-tooth syndrome. These names all describe the same core clinical picture. NCBI+2National Organization for Rare Disorders+2

Types

Experts now separate BCD into two genetic subtypes:

• Type 1 (BCDS1): due to CDH1 variants. CDH1 encodes E-cadherin, a protein that helps cells stick to each other during early facial and tooth development. Some people with CDH1 variants also carry a cancer risk (see note below). PubMed+1

• Type 2 (BCDS2): due to CTNND1 variants. CTNND1 encodes p120-catenin, which binds to E-cadherin and stabilizes it at the cell surface. Changes in this partner protein can produce the same eyelid-lip-tooth pattern. PMC+1

Important note about cancer risk: Some—but not all—people with CDH1-related BCD may have an increased risk for diffuse gastric cancer (and possibly lobular breast cancer) later in life. Genetic counseling can help decide on the right surveillance. This does not automatically apply to every person with BCD, and management should be individualized. PubMed+1

Causes

“Causes” here means things that can lead to the syndrome or explain why it happens. In BCD, these are almost entirely genetic and relate to how facial tissues adhere and shape during early development.

1. Pathogenic variants in CDH1: Changes that damage E-cadherin disrupt cell-to-cell adhesion in facial, eyelid, and tooth buds. PubMed

2. Pathogenic variants in CTNND1: Changes that damage p120-catenin destabilize E-cadherin at the membrane. PMC

3. Loss-of-function (truncating) CDH1 variants: Nonsense/frameshift variants can stop E-cadherin production early. PubMed

4. Loss-of-function CTNND1 variants: Truncating variants reduce p120-catenin, weakening adhesion. PMC

5. Missense variants that disrupt protein function (CDH1 or CTNND1): Single-letter amino acid swaps can impair binding between E-cadherin and p120-catenin. PubMed

6. Splice-site variants: Errors in splicing can remove key parts of CDH1 or CTNND1 mRNA. PubMed

7. Small deletions/insertions in CDH1 or CTNND1: These can shift the reading frame and inactivate the gene. PubMed

8. Larger deletions (copy-number variants) including CDH1: Loss of the chromosomal region with CDH1 can produce BCD features. PubMed

9. De novo variants: A new variant appears for the first time in the child, with no family history. PubMed

10. Parental germline mosaicism: A parent may carry the variant in some egg/sperm cells, leading to recurrence risk even if the parent looks unaffected. PubMed

11. Disrupted E-cadherin/p120-catenin interaction: Any change that weakens this partnership can derail eyelid, lip, and tooth development. PubMed

12. Perturbed epithelial–mesenchymal signaling: These adhesion proteins help guide cell shape and movement in early face formation; disruption alters normal patterning. Frontiers

13. Haploinsufficiency: Having only one working copy of CDH1 or CTNND1 is not enough for normal development. PubMed

14. Dominant-negative effects: Some altered proteins can interfere with the normal partner protein and worsen the effect. PubMed

15. Altered cell migration in craniofacial primordia: Poor adhesion affects how cells move and align when the face, eyelids, and teeth form. PubMed

16. Defective tooth bud signaling: E-cadherin/p120-catenin changes can disturb tooth initiation and shape. PubMed

17. Abnormal eyelid fusion and opening timing: Mouse and other models show adhesion pathway defects can impair eyelid morphogenesis. PubMed

18. Impaired palatal shelf growth and fusion: Weak cell adhesion can hinder palate closure, increasing cleft palate risk. PMC

19. Modifier genes: Other adhesion or signaling genes may modify how severe the features are within a family. PubMed

20. Stochastic developmental variation: Even with the same variant, random developmental differences can change severity and features. PubMed

Symptoms and signs

1. Ectropion of the lower eyelids: The inner eyelid surface turns outward and is exposed. Eyes can feel dry and irritated. NCBI

2. Euryblepharon (wide, sagging outer lower lid): The outer part of the lower lid sags or looks stretched, widening the opening. NCBI

3. Lagophthalmos (incomplete eyelid closure): The lids may not close fully, especially during sleep, causing dry eyes. NCBI

4. Distichiasis (extra row of lashes): Extra eyelashes may grow from the inner lid lining and irritate the eye. NCBI

5. Cleft lip with or without cleft palate: A split in the upper lip, sometimes with a split in the roof of the mouth. This can affect feeding and speech. Orpha

6. Dental agenesis (oligodontia): Some teeth never form. Gaps are common. Orpha

7. Conical or peg-shaped teeth: Present teeth can be small and cone-shaped. Orpha

8. Delayed tooth eruption: Teeth may come in late. Orpha

9. Enamel defects: Enamel can be thin or uneven, increasing cavity risk. PubMed

10. Wide nasal bridge/telecanthus: The inner corners of the eyes can appear widely spaced. NCBI

11. Nail or hair differences (ectodermal features): Some people have hair or nail changes typical of mild ectodermal dysplasia. PubMed

12. Feeding and speech issues: Clefts can cause early feeding trouble and later speech problems without treatment. Orpha

13. Tearing or eye irritation: The eye surface dries more easily with ectropion and lagophthalmos. NCBI

14. Occasional limb or spinal findings: Rare reports describe limb reduction or spina bifida in some individuals. Genetic Rare Diseases Center

15. Possible cancer risk in some CDH1-positive families: A few families show diffuse gastric cancer or lobular breast cancer risk, so genetics teams may advise tailored screening. PubMed

Diagnostic tests

A) Physical examination (bedside and clinic checks)

1. Comprehensive craniofacial exam: A geneticist or craniofacial team documents eyelid shape, lid position, lip and palate status, nose/eye spacing, and facial proportions to recognize the BCD pattern. MedlinePlus

2. Targeted eyelid exam: Looks for ectropion, euryblepharon, lagophthalmos, and distichiasis; helps plan lid protection or surgery. NCBI

3. Oral/dental exam: Counts missing teeth, notes tooth shape, enamel quality, occlusion, and eruption to plan pediatric dentistry. Orpha

4. Cleft assessment (lip/palate): Checks lip gap width, palate involvement, and feeding impact to time repair and therapy. Orpha

5. Skin, hair, and nails survey: Screens for mild ectodermal changes that often accompany dental findings. PubMed

B) Manual/functional tests (simple office procedures)

1. Eyelid distraction and snap-back tests: Gentle maneuvers gauge lid laxity in ectropion/euryblepharon and help decide if surgery is needed. NCBI
2. Corneal surface staining and tear film break-up time: Dyes highlight dry spots from exposure; guides lubrication and eyelid care. NCBI
3. Schirmer test: Measures tear production when exposure from lagophthalmos irritates the eye. NCBI
4. Feeding observation in infants: Evaluates latch, nasal regurgitation, and weight gain when clefts are present. Orpha
5. Speech and resonance evaluation: Identifies nasal speech or articulation issues from a cleft palate and plans therapy. Orpha

C) Laboratory and pathological tests

1. Genetic testing—CDH1 sequencing: Confirms BCDS1 when a pathogenic CDH1 variant is found. Family members may be offered testing. PubMed
2. Genetic testing—CTNND1 sequencing: Confirms BCDS2 when a CTNND1 variant is present. PMC
3. Deletion/duplication (CNV) analysis: Looks for larger missing or duplicated pieces involving CDH1/CTNND1 if sequencing is negative. PubMed
4. Multigene craniofacial/cleft panels: If single-gene tests are negative, a broader panel may detect less common variants in the same pathway. PubMed
5. Cascade testing in relatives: Tests parents/siblings when a familial variant is known; helps with counseling and screening. PubMed

D) Electrodiagnostic tests

1. Tympanometry and audiology: Children with cleft palate can have middle-ear fluid and hearing problems; testing guides ear tube decisions. (Electrophysiologic hearing measures may be used in infants.) Orpha
2. Polysomnography (sleep study): If airway obstruction, snoring, or exposure keratopathy suggests sleep-related problems, a study may be considered; it is not standard for everyone with BCD. Orpha

E) Imaging tests

1. Panoramic dental X-ray (orthopantomogram): Maps which teeth are missing, small, or impacted and supports orthodontic planning. Orpha
2. Cone-beam CT (CBCT) or cephalometric radiographs: Provide 3-D detail for jaw, palate, and tooth position before surgery or orthodontics. Orpha
3. Craniofacial CT/MRI (selected cases): Used when surgeons need precise anatomy for complex cleft repair or eyelid reconstruction; not required in every case. Orpha

Non-pharmacological treatments (therapies & other care)

1. Frequent ocular lubrication & eyelid taping (short-term)
   Description: When lower-lid ectropion or lagophthalmos leaves the eye surface exposed, the cornea dries and becomes vulnerable. Thick nighttime ointments and daytime gels/artificial tears create a protective layer while the team plans definitive eyelid repair. Gentle eyelid taping during sleep (or moisture chambers) can reduce exposure and support blinking in the short term. Parents are shown exactly how to apply ointment from the nose outward, avoid touching the tube tip to lashes, and place hypoallergenic tape without traction on the skin. This conservative regimen is often the very first step in newborns and in postsurgical intervals. Warning signs for urgent review include persistent redness, pain, light sensitivity, discharge, or any reduction in looking behavior. Purpose: Protect the cornea and maintain comfort/vision while awaiting definitive repair. Mechanism: Replaces the missing tear film and physically shields the cornea from desiccation and friction. EyeWiki+1

2. Managing distichiasis conservatively (lubricants, epilation)
   Description: Extra lashes (distichiasis) can scrape the cornea. In mild cases, frequent lubrication plus epilation (plucking) at clinic visits provides relief; in recurrent symptomatic cases, electrolysis or cryotherapy are considered later. Families are taught to seek help if the child rubs eyes, turns away from light, or shows watery discharge—signs of lash-cornea touch. Purpose: Reduce corneal irritation, abrasions, and infection risk. Mechanism: Lubricants reduce friction; epilation temporarily removes aberrant lashes; definitive procedures destroy offending follicles. EyeWiki+2AAO+2

3. Protective bandage contact lenses (specialist use)
   Description: In selected older infants/children with exposure keratopathy, an ophthalmologist may place a soft bandage lens as a temporary shield. This is done with close monitoring to avoid infection, and it’s paired with antibiotic prophylaxis when indicated. Purpose: Act as a smooth barrier between the eyelid/lashes and cornea during healing or before surgery. Mechanism: A hydrogel/silicone hydrogel lens spreads forces across the cornea and holds tears against the surface. EyeWiki

4. Staged surgical repair of lower-lid ectropion
   Description: Definitive correction is surgical; common approaches include lateral tarsal strip (tightens the lower lid), canthopexy/canthoplasty, skin grafts/flaps for vertical shortage, and adjunctive procedures tailored to congenital anatomy. In children, timing and technique balance ocular protection with growth. Purpose: Restore eyelid position to protect the cornea and normalize blink. Mechanism: Shortens/tightens the lid and re-anchors the lateral canthal tendon to re-establish lid-globe apposition. PMC+2PMC+2

5. Definitive treatment for severe distichiasis (cryotherapy/lamellar split)
   Description: When conservative care fails, surgeons may split the eyelid lamella and apply cryotherapy to the posterior lamella to destroy aberrant follicles. Families are counseled about swelling, discomfort, and possible depigmentation; success rates are high with careful technique. Purpose: Permanently remove follicles causing recurrent corneal trauma. Mechanism: Controlled freezing injures lash follicles so they no longer produce lashes. EyeWiki+1

6. Early feeding support for cleft lip/palate
   Description: Babies with cleft palate may struggle to generate suction. Specialized bottles, upright positioning, and lactation/feeding therapy improve weight gain and reduce aspiration risk until surgical repair. Purpose: Ensure safe nutrition and growth. Mechanism: Adaptive nipples/valves compensate for palatal gap; positional strategies reduce nasal regurgitation and reflux. ASHA

7. Cleft lip and palate repair on a guideline-based timeline
   Description: Multidisciplinary teams plan lip repair in early months and palatoplasty ideally by 6–18 months for best speech outcomes (many centers 6–12 months; evolving trial data suggest even earlier repair can reduce velopharyngeal insufficiency). Timing is individualized for airway/medical issues. Purpose: Restore anatomy for feeding, speech, and facial growth. Mechanism: Re-approximates muscles and mucosa of the lip and palate to re-establish closure and function. PMC+2PMC+2

8. Hearing monitoring and tympanostomy when indicated
   Description: Children with cleft palate often have eustachian tube dysfunction and otitis media with effusion; periodic audiology and ENT evaluation are standard, with ear tubes if indicated. Purpose: Protect language development and reduce conductive hearing loss. Mechanism: Tympanostomy ventilates the middle ear and reduces fluid build-up. ACPA

9. Speech-language therapy
   Description: Even after successful palatoplasty, some children experience articulation or resonance issues. Early, ongoing therapy (and evaluation for velopharyngeal insufficiency) supports clear speech and social development. Purpose: Optimize intelligibility and school readiness. Mechanism: Targets articulation placement, airflow, and compensatory patterns. Lippincott Journals

10. Secondary alveolar bone grafting (ABG)
    Description: When the alveolar ridge is cleft, ABG in the mixed dentition (often ~6–10 years) supports tooth eruption, closes fistulas, and stabilizes the maxilla; orthodontics coordinates space before/after grafting. Purpose: Provide bone for tooth eruption and oral continuity. Mechanism: Autologous bone placed into the alveolar cleft integrates and restores ridge continuity. PubMed+1

11. Orthodontic/phased dental rehabilitation
    Description: BCD commonly features oligodontia and conical teeth. Care proceeds in phases: caries prevention; space maintenance; interceptive orthodontics; later, prosthodontic replacement (bridges/implants when growth allows) to restore function and aesthetics. Purpose: Achieve stable bite, speech clarity, and facial harmony. Mechanism: Guided tooth movement and prosthetics replace missing units and optimize occlusion. AAPD

12. Protective eyewear and UV hygiene
    Description: Sunglasses and safety eyewear reduce photophobia from exposure and guard post-op eyes. Purpose: Comfort and injury prevention. Mechanism: Blocks UV/glare and mechanical risks during play. EyeWiki

13. Lacrimal care
    Description: Ectropion can destabilize the tear meniscus. Warm compresses, lid hygiene, and—when needed—lacrimal probing/intubation are considered by oculoplastics. Purpose: Reduce tearing/infections. Mechanism: Restores drainage and lid-globe apposition. EyeWiki

14. Ocular surface infection prevention
    Description: With exposure or lash touch, the cornea is infection-prone. Hygiene, avoiding eye rubbing, and prompt evaluation of redness/pain reduce ulcer risk. Purpose: Prevent keratitis. Mechanism: Minimizes bacterial load and trauma. EyeWiki

15. Psychological and social support
    Description: Visible differences and repeated surgeries can stress families. Psychosocial support and peer groups improve coping and adherence. Purpose: Emotional resilience and quality of life. Mechanism: Counseling reduces anxiety and supports development. ACPA

16. Nutritional counseling
    Description: Growth monitoring and tailored feeding plans ensure adequate calories, iron, calcium, and vitamin D, especially around surgeries. Purpose: Support healing and development. Mechanism: Meets macro/micronutrient needs for tissue repair and growth. Office of Dietary Supplements+1

17. Oral-health probiotics as an adjunct (not a replacement for fluoride)
    Description: Selected probiotics may modestly reduce caries-related bacteria and inflammation when used with standard care; they do not replace fluoride. Use under dental guidance. Purpose: Complement biofilm management. Mechanism: Competitive inhibition and immune modulation in oral microbiome. PMC+1

18. Post-op enhanced recovery pathways
    Description: Child-friendly ERAS booklets prepare families for ABG and other surgeries, improving pain control and feeding resumption. Purpose: Safer, smoother recoveries. Mechanism: Standardized pre-/post-op steps reduce complications. University of Rochester Medical Center

19. Team-based, long-term follow-up
    Description: ACPA-aligned care maps milestones from infancy through adolescence, coordinating surgery, dental/orthodontic, hearing, speech, and psychosocial care. Purpose: Consistent quality and outcomes. Mechanism: Interdisciplinary protocols with periodic team review. ACPA+1

20. Genetic counseling
    Description: Families benefit from counseling about inheritance, recurrence risk, and options in future pregnancies. Purpose: Informed family planning. Mechanism: Explains autosomal-dominant risk and testing options. Nature

Drug treatments

There are no FDA-approved, disease-specific drugs for blepharo-cheilo-odontic syndrome. Medications below are supportive, used to protect the eye, manage infections/inflammation, or support perioperative cleft care. Use is individualized, sometimes off-label, and must follow clinician guidance and the official FDA label for dosing, age limits, and safety. Orpha

1. Cyclosporine ophthalmic emulsion 0.05% (RESTASIS®)
   Class: Topical calcineurin inhibitor immunomodulator.
   Description (≈150 words): For eyes chronically irritated from exposure, cyclosporine can increase tear production in patients with tear reduction from ocular surface inflammation. In select older children and adolescents under specialist care, it may be considered when lubrication alone is insufficient. Responses are gradual (weeks). It is not for acute infection and stings on instillation. Purpose: Improve basal tear production to protect the cornea. Mechanism: Locally suppresses T-cell–mediated inflammation in lacrimal function. Label cautions: Avoid contact lenses during active inflammation; monitor for infection; pediatric use is clinician-judged. Dosage/Timing: Per label, typically one drop in each eye twice daily about 12 hours apart, if prescribed. Side effects: Burning, redness; rare hypersensitivity. FDA Access Data+1

2. Prednisolone acetate ophthalmic suspension (e.g., PRED FORTE®, OMNIPRED®)
   Class: Topical corticosteroid.
   Description: Short courses may calm significant ocular surface inflammation around surgery or severe exposure, always under close specialist supervision to avoid steroid complications. Purpose: Reduce inflammatory damage. Mechanism: Inhibits phospholipase A2 pathway, reducing prostaglandins/leukotrienes. Label cautions: Contraindicated in untreated ocular infection; monitor IOP and for cataract with repeated use. Side effects: Elevated IOP, delayed healing. Dosing/Timing: As per label and ophthalmologist. FDA Access Data+1

3. Moxifloxacin ophthalmic solution (e.g., VIGAMOX®, MOXEZA™)
   Class: Topical fluoroquinolone antibiotic.
   Description: Used peri-operatively or for bacterial keratitis risk when exposure, lash touch, or corneal defects increase infection risk—clinician-directed. Purpose: Treat/prevent susceptible ocular infections. Mechanism: Inhibits bacterial DNA gyrase/topoisomerase IV. Safety: Avoid unnecessary antibiotics; watch for hypersensitivity. Dosing: Per label regimen. Side effects: Transient irritation. FDA Access Data+2FDA Access Data+2

4. Erythromycin ophthalmic ointment
   Class: Macrolide antibiotic ointment.
   Description: Lubricating antibiotic ointment often used at bedtime to protect the cornea and reduce bacterial load when lids don’t close well; also used after lash procedures. Purpose: Reduce infection risk and add lubrication. Mechanism: Inhibits 50S ribosomal subunit. Safety: Use only when infection risk is judged; monitor for hypersensitivity. Dosing: Thin ribbon at clinician-directed frequency. Side effects: Blurred vision short-term, minor irritation. (FDA comms/labeling apply.) U.S. Food and Drug Administration

5. Artificial tears / carboxymethylcellulose ophthalmic solutions
   Class: Ocular lubricants.
   Description: First-line symptomatic relief for exposure; available over the counter; preservative-free options preferred with frequent dosing. Purpose: Maintain moisture and reduce friction. Mechanism: Viscous polymers mimic tear film. Safety: Follow specific product labels; avoid contamination. Dosing: As needed per label. Side effects: Temporary blur/irritation. nctr-crs.fda.gov+2nctr-crs.fda.gov+2

6. Topical antibiotic–steroid combo (e.g., prednisolone acetate + gentamicin, PRED-G®)
   Class: Combined anti-inflammatory + antibacterial.
   Description: Select post-op situations or surface inflammation with infection risk may prompt short, specialist-supervised courses. Purpose: Control inflammation with coverage for susceptible bacteria. Mechanism: Steroid reduces inflammation; gentamicin disrupts bacterial protein synthesis. Safety: Steroid risks as above; use only when benefit outweighs risk. Dosing: Per label/clinician orders. FDA Access Data

7. Acetaminophen (paracetamol) oral
   Class: Analgesic/antipyretic.
   Description: Foundational post-operative pain control after cleft or eyelid procedures when appropriate for age/weight. Purpose: Comfort and faster recovery. Mechanism: Central COX modulation (exact mechanism not fully defined). Safety: Dose strictly by weight and label; avoid overdose and duplicate combo products. Timing/Dose: Per pediatric label and surgeon. (FDA OTC labeling applies.) University of Rochester Medical Center

8. Ibuprofen oral (age/weight appropriate)
   Class: NSAID.
   Description: May be used for post-op pain/swelling when surgeon approves and child meets age criteria. Purpose: Anti-inflammatory analgesia. Mechanism: COX-1/COX-2 inhibition. Safety: Avoid dehydration; GI/renal cautions; follow pediatric label. Timing/Dose: Per label/surgeon orders. (FDA OTC labeling applies.) University of Rochester Medical Center

9. Amoxicillin oral (when indicated)
   Class: Penicillin-class antibiotic.
   Description: For clearly indicated infections of the ear, nose, throat, or surgical-site prophylaxis per protocol. Not for routine use. Purpose: Treat susceptible infections that can complicate cleft/ENT care. Mechanism: Inhibits bacterial cell-wall synthesis. Safety: Allergy checks; antibiotic stewardship. Dosing/Timing: Strictly per FDA label and prescriber. Side effects: GI upset, rash. FDA Access Data+1

10. Topical ocular antihistamine/mast-cell stabilizers (specialist-directed)
    Class: Antihistamine/mast-cell stabilizer drops.
    Description: If allergic conjunctival inflammation worsens exposure symptoms, these agents can reduce itch and redness. Purpose: Improve comfort to protect ocular surface. Mechanism: Blocks histamine and stabilizes mast cells. Safety/Dose: Per individual FDA label; pediatric ages vary. (Representative FDA SPL labels apply.) nctr-crs.fda.gov

11. Hypertonic saline ointment/solutions (selected exposure edema)
    Class: Ophthalmic hyperosmotics.
    Description: Occasionally used short-term to reduce epithelial edema and improve vision/comfort under ophthalmologist guidance. Purpose: Dehydrate edematous cornea. Mechanism: Draws fluid out osmotically. Safety: Stinging common; follow label. (Representative FDA OTC monograph/SPL.) Lippincott Journals

12. Post-op nasal saline and decongestant strategy (short, surgeon-directed)
    Class: Saline irrigants; decongestants (short course only, age-appropriate).
    Description: After cleft surgery, gentle saline sprays reduce crusting; any decongestant use is brief and strictly age-/label-directed to protect healing. Purpose: Keep airway comfortable and reduce mouth-breathing dryness. Mechanism: Saline moisturizes; decongestants shrink mucosa. Safety: Avoid prolonged decongestant use (rebound). (Follow FDA labeling.) University of Rochester Medical Center

13. Topical ocular lubricating ointments (petrolatum/mineral oil)
    Class: Ocular lubricants/ointments.
    Description: Nighttime thick ointments protect the cornea during sleep in lagophthalmos. Purpose: Overnight surface protection. Mechanism: Occlusive barrier to evaporation. Safety: Blurs temporarily. (FDA OTC labeling applies.) EyeWiki

14. Topical antibiotic ointment to incisions (surgeon-specific)
    Class: Topical antibiotic.
    Description: Some teams use brief post-op antibiotic ointment on external incisions. Purpose: Decrease superficial infection risk. Mechanism: Local antibacterial effect. Safety/Dose: Per label and surgeon; avoid prolonged use. U.S. Food and Drug Administration

15. Topical steroid–antibiotic to eyelid margin (select cases)
    Class: Combo as above.
    Description: Short specialist-directed courses can calm inflamed margins after cryo/lamellar procedures. Purpose: Reduce inflammation + cover flora. Mechanism/Safety: As above. FDA Access Data

16. Chlorhexidine gluconate oral rinse (age-appropriate, dental-supervised)
    Class: Antiseptic mouthwash.
    Description: For adolescents/adults, short courses can reduce plaque/gingivitis when hygiene is difficult around obturators/appliances. Purpose: Oral biofilm control. Mechanism: Membrane disruption of oral bacteria. Safety: Tooth staining, taste change; avoid in small children; follow label. (FDA SPL labeling applies.) AAPD

17. Fluoride varnish/fluoridated toothpaste (dental standard)
    Class: Topical fluoride.
    Description: Caries prevention is crucial when teeth are few/conical. Dentists individualize varnish intervals and prescribe appropriate toothpaste strength for age. Purpose: Harden enamel and resist decay. Mechanism: Promotes remineralization and resists acid. Safety: Use age-appropriate amounts to prevent fluorosis; follow dental guidance. (FDA/ADA standards and product labels.) AAPD

18. Peri-operative antiemetics (e.g., ondansetron—if indicated)
    Class: 5-HT3 antagonist.
    Description: To reduce vomiting after anesthesia for cleft/eyelid surgeries, teams may use antiemetics per pediatric protocols. Purpose: Safer recovery and hydration. Mechanism: Blocks serotonin receptors in the chemoreceptor trigger zone. Safety/Dose: Strictly per FDA label/anesthesiology orders. (FDA label applies.) University of Rochester Medical Center

19. Analgesic step-up/step-down protocols
    Class: Multimodal pain control.
    Description: Teams typically start with acetaminophen ± NSAID and reserve stronger agents briefly if needed, then step down fast. Purpose: Comfortable recovery without overuse. Mechanism: Different pain pathways targeted. Safety: Follow labels; avoid duplication/overdose. (Programmatic, FDA-aligned.) University of Rochester Medical Center

20. Antibiotic stewardship across all stages
    Class: Policy rather than a drug.
    Description: Use antibiotics only when clearly indicated to protect efficacy and reduce resistance. Purpose: Safe, effective infection management. Mechanism: Indication-driven selection and duration. Safety: Align with FDA labels and local guidelines. U.S. Food and Drug Administration

Safety reminder: Specific dosages and timing must come from your clinicians using the exact FDA label for the product and the child’s weight/age/indication.

Dietary molecular supplements

(These do not treat BCD itself; they support general growth, bone/teeth health, and oral healing when clinically appropriate. Always discuss with your care team.)

1. Vitamin D – supports calcium absorption and bone/tooth mineralization; deficiency is common in children and affects growth. Teams check levels and supplement to reach safe targets. Mechanism: Regulates calcium/phosphate; modulates immunity. Typical dosing: Per clinician/NIH ODS guidance for age; avoid excess to prevent hypercalcemia. Office of Dietary Supplements

2. Calcium – essential for teeth and bone; dietary optimization is first-line; supplements added if intake is low. Mechanism: Structural mineral for enamel/dentin and bone; muscle/nerve function. Dose: Meet age-specific recommended intakes; avoid excessive combined calcium+vitamin D without supervision. Office of Dietary Supplements+1

3. Omega-3 fatty acids (EPA/DHA) – can modestly reduce inflammation and support general health; use food sources (fish) where possible. Mechanism: Incorporation into cell membranes; anti-inflammatory mediators. Dose: As per ODS guidance; mind bleeding risk at high doses or before surgery. Office of Dietary Supplements

4. Folate (folic acid) – critical in cell division and DNA synthesis; emphasized for maternal health pre-pregnancy; in children, regular dietary folate is usually sufficient unless a deficiency exists. Mechanism: One-carbon metabolism. Dose: Age-appropriate RDA; excess unnecessary. Office of Dietary Supplements

5. Probiotic lozenges/foods (adjunct) – may support oral microbiome with orthodontic appliances; not a fluoride substitute. Mechanism: Competitive inhibition and immune signaling. Dose: Product-specific; short courses under dental guidance. PMC

6. Vitamin K2 (dietary focus) – supports bone metabolism; prioritize food sources (fermented foods, certain cheeses). Evidence for supplementation beyond deficiency is mixed; discuss first. Mechanism: Carboxylates osteocalcin. Dose: Food-based; supplements only if advised. (Background from ODS general bone health context.) Office of Dietary Supplements

7. Zinc (if deficient) – needed for tissue repair and immunity; supplement only if deficiency is documented to avoid copper imbalance. Mechanism: Cofactor in enzyme systems and wound healing. Dose: Age-appropriate RDA; clinician-guided if supplementing. (ODS micronutrient framework.) Office of Dietary Supplements

8. Iron (if deficient) – common in toddlers and peri-operative periods; improves healing and development. Mechanism: Oxygen transport; enzyme function. Dose: Laboratory-guided; avoid unnecessary iron. (General ODS nutrition context.) Office of Dietary Supplements

9. Vitamin C (dietary emphasis) – supports collagen synthesis for wound healing. Mechanism: Cofactor for prolyl/lysyl hydroxylases. Dose: Meet RDA via diet; supplements only if intake is low. (General NIH nutrition guidance.) Office of Dietary Supplements

10. Fluoride (topical preferred) – though not a “molecular supplement” in pill form for most children, topical fluoride through toothpaste/varnish is crucial for caries prevention when teeth are conical or few. Mechanism: Enamel remineralization and acid resistance. Use: As directed by dentist. AAPD

Immunity booster / regenerative / stem-cell drugs

Transparent note: There are no approved “immunity-booster,” regenerative, or stem-cell drugs for BCD. Stem-cell therapy is not an evidence-based or FDA-approved treatment for this syndrome. Supportive measures—nutrition, vaccinations, and standard peri-operative care—are the safe path. Please avoid unproven “immune boosters.” Orpha

Surgeries (what they are; why done)

1. Lower-lid ectropion repair (e.g., lateral tarsal strip ± skin graft/flap)
   Procedure: Tightens and repositions the lower eyelid; may add skin if there’s vertical shortage.
   Why: Protects the cornea, restores blink, stops tearing and irritation. PMC+1

2. Distichiasis surgery (lamellar split with cryotherapy)
   Procedure: Splitting the eyelid margin and freezing posterior follicles.
   Why: Permanently removes aberrant lashes that scrape the cornea. EyeWiki+1

3. Cleft lip repair (cheiloplasty)
   Procedure: Reconstructs lip muscle/skin with symmetry and function.
   Why: Feeding efficiency, facial form, and foundation for speech/social development. Lippincott Journals

4. Cleft palate repair (palatoplasty)
   Procedure: Re-forms the soft/hard palate and muscular sling; timing often 6–12 months, ideally before 18 months for speech outcomes.
   Why: Enable normal speech and swallowing, reduce ear disease. PMC+1

5. Secondary alveolar bone graft (with orthodontics)
   Procedure: Places autologous bone into the alveolar cleft during mixed dentition to support tooth eruption and close fistulas.
   Why: Stabilizes arch, supports teeth/implants, improves function. PubMed

Preventions

1. Team-based cleft/craniofacial follow-up from birth – prevents avoidable complications through coordinated protocols. ACPA

2. Early ocular surface protection – prevents corneal ulcers/scarring from exposure. EyeWiki

3. Prompt management of distichiasis – prevents recurrent abrasions/keratitis. EyeWiki

4. Timely palatoplasty – helps prevent long-term speech/resonance disorders. PMC

5. Audiology/ENT surveillance – prevents untreated conductive hearing loss. ACPA

6. Dental caries prevention (fluoride + hygiene + diet) – prevents tooth loss and infection in already reduced dentition. AAPD

7. Orthodontic planning before ABG – prevents graft failure and malocclusion. PubMed

8. Peri-operative ERAS education – prevents dehydration, pain crises, and readmission. University of Rochester Medical Center

9. Family genetic counseling – prevents misinformation and supports future planning. Nature

10. Maternal periconceptional folic acid (public-health level) – proven to prevent neural tube defects; evidence for oral cleft prevention is mixed, but some studies suggest benefit; still recommended for all who could become pregnant. USPSTF+2Cochrane+2

When to see a doctor (now vs. routine)

See urgent ophthalmology now for eye pain, light sensitivity, persistent redness, discharge, or if the child keeps rubbing/squinting—signs of corneal injury from exposure or lashes. See your cleft team promptly for feeding difficulty, poor weight gain, choking, nasal regurgitation, or bleeding at surgical sites. Routine scheduled visits with the cleft/craniofacial team, ophthalmology, audiology, speech, and pediatric dentistry/orthodontics are essential through growth to catch problems early and plan staged care. EyeWiki+1

What to eat

Eat 

1. Nutrient-dense meals with adequate protein for healing after surgeries.

2. Dairy/fortified alternatives for calcium; discuss supplements only if intake is low. Office of Dietary Supplements

3. Vitamin D sources (safe sun, fortified milk, eggs, fish) as advised; supplement only if recommended. Office of Dietary Supplements

4. Plenty of fruits/vegetables for vitamin C and fiber to aid wound healing and bowel regularity post-op.

5. Omega-3–rich fish (e.g., salmon) weekly as appropriate for age. Office of Dietary Supplements

Avoid/limit 

1. Sugary snacks/drinks that raise caries risk in conical/few teeth. AAPD
2. Hard, sharp foods immediately after oral surgeries—follow surgeon’s texture guidance.
3.  Unnecessary supplement megadoses (e.g., excess vitamin D or calcium) without labs. Office of Dietary Supplements
4. Smoking exposure around the child; it worsens healing and ear disease risk.
5. Herbal “immune boosters” without evidence in BCD; discuss all products with the team first. Orpha

Frequently asked questions

1) Is BCD syndrome the same as “blepharocheilodontic syndrome”?
Yes—same condition; names reflect eyelid (blepharo-), lip (cheilo-), and tooth (odontic) findings. Orpha

2) Is it inherited?
Often autosomal dominant; variable expression means features can differ among relatives. Genetic counseling is recommended. Nature

3) Which genes are involved?
Research implicates the CDH1 pathway in at least one subtype; other loci may exist. Testing can inform recurrence risk but does not change the need for phenotype-based care. Nature

4) What eye problems are most urgent?
Exposure from ectropion/lagophthalmos and distichiasis that scratches the cornea. Urgent lubrication and, when needed, surgical correction protect vision. EyeWiki+1

5) Can extra eyelashes be cured without surgery?
Mild cases may respond to lubrication and periodic epilation; persistent symptomatic cases often need cryotherapy or lamellar procedures. EyeWiki+1

6) When should the palate be repaired?
Many centers perform palatoplasty by 6–12 months and aim for before 18 months to optimize speech outcomes; timing is individualized. PMC+1

7) Will my child need bone grafts later?
If the alveolar ridge is cleft, secondary alveolar bone grafting during mixed dentition supports tooth eruption and arch stability. PubMed

8) Why are speech and hearing checks so frequent?
Cleft palate affects eustachian function and resonance; early identification and therapy prevent long-term communication issues. ACPA

9) Are there medicines that “treat” BCD?
No disease-specific drugs exist; medications mainly protect the eyes, treat infections/inflammation, and support surgery. Use FDA-labeled products under clinician guidance. Orpha

10) Are stem-cell or regenerative shots recommended?
No—there are no approved stem-cell or regenerative drugs for BCD. Avoid unproven interventions. Orpha

11) Do probiotics help dental health?
As an adjunct (not replacing fluoride), certain probiotics can modestly improve oral microbiota in some studies; ask your dentist. PMC

12) Which nutrients matter most for bones and teeth?
Adequate calcium and vitamin D via diet (and supplements only if advised) support growth and healing. Office of Dietary Supplements+1

13) Does folic acid in pregnancy prevent BCD?
Folic acid prevents neural tube defects and is universally recommended; evidence for preventing oral clefts is mixed but suggests possible reduction—so it’s still advised for all who might become pregnant. USPSTF+2Cochrane+2

14) What outcomes can we expect with modern care?
With team-based protocols, timely eyelid repair, and staged cleft care, most children achieve good ocular comfort, speech, feeding, and social participation. ACPA

15) How do we keep care coordinated over years?
Enroll with an ACPA-recognized multidisciplinary team; they’ll map surgeries, dental/orthodontic phases, hearing/speech follow-up, and psychosocial support through adolescence. ACPA

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.

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