Ectropion Inferior–Cleft Lip and/or Palate Syndrome

Patient Tools

Read, save, and share this guide

Use these quick tools to make this medical article easier to read, print, save, or share with a family member.

On this page19 sections

Article Summary

Ectropion inferior–cleft lip and/or palate syndrome is a rare, inherited condition that starts before birth. “Blepharo” means eyelid, “cheilo” means lip, and “odontic” means teeth. Children with this syndrome usually have lower eyelids that turn outward (ectropion), which can expose and dry the eyes. Many have a cleft lip with or without a cleft palate. Teeth may be cone-shaped, small, or missing, and dental eruption...

Key Takeaways

  • This article explains Other names in simple medical language.
  • This article explains Types in simple medical language.
  • This article explains Causes in simple medical language.
  • This article explains Symptoms and signs in simple medical language.
Before reading

RX Patient Tools

Use these quick guides before reading the article, or return to them when you need help preparing questions for a doctor.

Start here Choose the right pathway for symptoms, reports, medicines, or urgent warning signs. Disease article roadmap Read this topic step by step: meaning, symptoms, warning signs, diagnosis, treatment, prevention, and follow-up. Treatment planner Prepare questions about treatment choices, benefits, risks, side effects, and follow-up. Family & caregiver guide Organize symptoms, reports, medicines, questions, and follow-up safely. Nutrition & diet guide Prepare food, hydration, supplement, and medicine-timing questions safely. Prevention guide Organize risk factors, protective habits, screening, and warning signs. Recovery guide Prepare a safe plan for activity, rehabilitation, warning signs, and follow-up.
Educational health guideWritten for patient understanding and clinical awareness.
Reviewed content workflowUse writer and reviewer profiles for stronger trust.
Emergency safety firstUrgent warning signs are highlighted below.
Choose your reading view

Patient View highlights a simple learning journey. Clinical View reveals structure, evidence, and editorial completeness.

Definition

Ectropion inferior–cleft lip and/or palate is a rare, condition that starts before birth. “Blepharo” means eyelid, “cheilo” means lip, and “odontic” means teeth. Children with this syndrome usually have lower eyelids that turn outward (ectropion), which can expose and dry the eyes. Many have a cleft lip with or without a cleft palate. Teeth may be cone-shaped, small, or missing, and dental eruption can be delayed. Some people also have extra upper-lid lashes (distichiasis), wide or sagging lids (euryblepharon), and difficulty closing the eyes completely (lagophthalmos). Rarely, limb or spine differences have been reported. The condition is linked to changes (variants) in genes of the E-cadherin pathway, especially CDH1 and CTNND1, which guide how cells stick together and organize during face, eyelid, and tooth development. MedlinePlus+2Genetic Rare Diseases Center+2

Blepharo-cheilo-odontic syndrome is a rare condition present at birth. It mainly affects the eyelids (causing the lower eyelids to turn outward—ectropion—so the eyes feel dry, irritated, and watery), the upper lip (causing cleft lip) and/or the roof of the mouth (causing cleft palate), and the teeth (abnormal shape or missing teeth). These problems happen together because of differences in how certain “glue-like” proteins (cadherins and their partners) hold cells together while the face and eyelids form in early development. In many families the condition is autosomal dominant (one changed copy of a gene is enough). Variants in CDH1 (E-cadherin) or CTNND1 (p120-catenin) have been reported. Early helps plan safe feeding, eye protection, speech, and staged surgeries by a cleft/craniofacial team and an oculoplastic surgeon. ScienceDirect+3MedlinePlus+3PubMed+3

Blepharocheilodontic (BCD) syndrome is a birth condition that mainly affects the eyelids, upper lip, and teeth. “Blepharo-” means eyelid, “-cheilo-” means lip, and “-dontic” means teeth. The most visible eye sign is lower-eyelid ectropion, where the lid turns outward and cannot protect the eye surface. People may also have euryblepharon (wide palpebral opening), lagophthalmos (incomplete eye closure), and sometimes an extra row of lashes on the upper lid (distichiasis). The mouth findings include cleft lip with or without cleft palate, plus conical or missing teeth and enamel problems. BCD is rare and usually inherited in an autosomal-dominant way, so a parent with the condition can pass it to a child. There is no single “cure,” but there are many effective supportive treatments and surgeries that protect vision, restore feeding and speech, and improve facial function. MedlinePlus+2NCBI+2

The lower eyelid can become loose or short in front skin, so it folds outward (ectropion). When the lid does not touch the eye, tears do not spread well, and the surface dries out. This causes burning, grittiness, redness, and reflex tearing. In BCD syndrome, ectropion often comes with other eyelid signs (euryblepharon, lagophthalmos) and dental anomalies; cleft lip/palate arises from incomplete joining of facial shelves before birth. Eye symptoms usually improve only after surgical tightening or grafting; drops and ointments are helpful but temporary. FDA Access Data+1

Other names

  • Blepharocheilodontic syndrome (BCD syndrome)

  • Blepharo-cheilo-dental syndrome (less common wording)

  • BCD, type 1 / type 2 (subtypes used in some databases)
    These names all point to the same core triad: eyelid–lip–tooth findings with lower-lid ectropion and clefting. NCBI+1

Types

Doctors sometimes separate BCD by the gene involved:

  1. BCD type 1 (CDH1-related) – Changes in CDH1 (the gene for E-cadherin) disturb cell-to-cell adhesion during craniofacial and eyelid development. People typically show the classic triad and eyelid findings (ectropion, euryblepharon, distichiasis). PubMed

  2. BCD type 2 (CTNND1-related) – Changes in CTNND1 (p120-catenin) weaken the same adhesion pathway. Features overlap greatly with type 1 (eyelid malformations, cleft lip/palate, tooth anomalies). PubMed+1

Note: Some conditions in the “cleft + eye + tooth” family (for example, EEC syndrome or branchio-oculo-facial syndrome) can look similar but have different genes and patterns. Careful evaluation separates them. PMC+2nfed.org+2

Causes

Main idea: BCD is . The “causes” below describe what changes the risk or how the biology goes wrong in this syndrome or in close look-alikes. Not every item applies to every patient.

  1. Pathogenic variants in CDH1 – The most established cause; disrupts E-cadherin, a key adhesion protein in the face/eyelid/tooth buds. PubMed

  2. Pathogenic variants in CTNND1 – Alters p120-catenin, which stabilizes E-cadherin at the cell surface. PubMed

  3. Loss-of-function variants – Nonsense/frameshift/critical splice changes remove or truncate essential protein domains, reducing adhesion signals. (Supported generically by gene-function studies in the cited paper.) PubMed

  4. Missense variants in functional domains – A single amino-acid change can weaken E-cadherin–p120 binding and disrupt tissue patterning. PubMed

  5. Haploinsufficiency – One working copy of CDH1/CTNND1 is not enough to maintain normal development in certain tissues. PubMed

  6. Dominant inheritance – BCD is typically autosomal dominant; one altered copy can cause the condition. (Multiple reviews/databases describe dominant transmission.) Genetic Rare Diseases Center+1

  7. De novo variants – The change can be new in the child (not present in either parent). Genetic Rare Diseases Center

  8. Variable expressivity – The same variant can look different in different people, producing a spectrum of eyelid/cleft/tooth findings. Genetic Rare Diseases Center

  9. Reduced penetrance – Some carriers show few or no obvious features, which can complicate . Genetic Rare Diseases Center

  10. Pathway disruption in animal models – Experimental loss of Cdh1/Ctnnd1 reproduces eyelid and craniofacial anomalies, proving the mechanism. PubMed

  11. Modifier genes – Other genes can modify severity (inferred from variable phenotypes across families). PubMed+1

  12. Developmental timing – Early facial fold and palatal shelf formation need intact E-cadherin signaling; disruption at a key time leads to clefting. PubMed

  13. Eyelid fusion defects – Temporary eyelid fusion (a normal fetal step) requires E-cadherin; failure can result in euryblepharon/ectropion. PubMed

  14. Abnormal migration of neural crest cells – These cells form craniofacial structures; adhesion defects can misguide them. (Mechanistic inference consistent with E-cadherin biology.) PubMed

  15. Tooth bud morphogenesis errors – Tooth shape/number depend on cell-cell signaling; pathway failure yields conical teeth or missing teeth. PubMed+1

  16. Distichiasis mechanism – Malposition of lash follicles likely relates to abnormal eyelid margin development under adhesion defects. MedlinePlus

  17. Environmental modifiers – General teratogens (e.g., maternal smoking or certain meds) can worsen craniofacial outcomes in clefting disorders, though BCD is fundamentally genetic. (General cleft literature; used cautiously as a modifier concept.) PMC

  18. Mosaicism in a parent – A parent with few features may carry the variant in some cells, affecting risk. (Genetic counseling principle for AD syndromes.) Genetic Rare Diseases Center

  19. Epigenetic influences – Gene regulation during palate and eyelid development may modify severity. (Mechanistic context from CDH1 pathway biology.) PubMed

  20. Overlap/misclassification with look-alikes – Conditions like EEC or BOFS can look similar; different genes cause them, which is why genetic testing is essential. PMC+1

Symptoms and signs

  1. Lower-lid ectropion – The lower eyelid turns outward, exposing the inner surface. Eyes feel dry, irritated, and watery because tears do not spread or drain normally. MedlinePlus+1

  2. Euryblepharon – The lower lid may look wide or lax and hang away from the eyeball, compounding exposure symptoms. MedlinePlus+1

  3. Lagophthalmos – Trouble closing the eyelids completely during blinking or sleep; worsens dryness and can threaten the . MedlinePlus

  4. Distichiasis – An extra row of upper-lid eyelashes that grow from the inner lining and can rub the eye, causing irritation. MedlinePlus+1

  5. eye irritation – Redness, burning, gritty sensation from exposure; may need regular lubrication. Cleveland Clinic

  6. and tearing – Bright lights hurt; tears may overflow because eyelid position blocks normal drainage. Mayo Clinic

  7. Cleft lip (± palate) – A visible split in the upper lip with or without an opening in the roof of the mouth; affects feeding, speech, and facial growth. Orpha

  8. Cleft palate alone – Some have only a palate opening; ear infections and speech issues can occur without an obvious lip finding. Orpha

  9. Conical or small teeth – Pointed, peg-like teeth that affect bite and appearance; may need dental reconstruction. NCBI

  10. Hypodontia – Missing teeth; chewing efficiency and speech can be affected. Genetic Eye Diseases Database

  11. Delayed tooth eruption or enamel defects – Teeth come in late or with weak enamel, raising cavity risk. Genetic Eye Diseases Database

  12. eye infections – Exposure and lash misdirection can lead to conjunctivitis or keratitis if unprotected. Cleveland Clinic

  13. Facial differences – Some have a prominent forehead or hairline changes, adding to a recognizable facial pattern. Genetic Eye Diseases Database

  14. Feeding and speech problems in infancy/childhood – Due to cleft palate and dental issues; often improve after repair and therapy. Orpha

  15. Rare limb/spine differences – Uncommon reports include limb reduction or spina bifida. Genetic Rare Diseases Center

Diagnostic tests

A) Physical examination 

  1. Detailed eyelid and ocular surface exam – An ophthalmologist inspects lid position (ectropion/euryblepharon), lashes (distichiasis), tear film, and cornea for dryness damage. This sets urgency for eye protection. MedlinePlus

  2. Blink/closure (lagophthalmos check) – The clinician watches for incomplete closure and measures the gap. This predicts exposure risk. MedlinePlus

  3. Facial/oral exam for clefting – Defines whether the lip, palate, or both are affected; guides timing of surgical repair and feeding plans. Orpha

  4. Tooth and bite inspection – A pediatric dentist notes tooth number, shape (conical), enamel quality, and eruption; forms the basis for staged dental care. NCBI+1

  5. Tear drainage checks (puncta and eyelid tone) – Simple in-office checks of lid tone and puncta patency help explain tearing and plan management. Mayo Clinic

  6. Skin and hair inspection – Looks for lash line abnormalities and any features prompting consideration of look-alike syndromes. MedlinePlus+1

B) Manual/office tests

  1. Lid “snap-back” and distraction tests – Gentle manual tests gauge lower-lid laxity; important for deciding on eyelid surgery. (Standard ectropion work-up.) Cleveland Clinic

  2. Fluorescein staining of the cornea – Dye highlights dry spots or scratches from exposure or misdirected lashes; guides urgency of lubrication or protective surgery. Mayo Clinic

  3. Schirmer test (tear production) – Paper strip test measures tears in exposure-dry eye. Cleveland Clinic

  4. Refraction and – Finds glasses needs and screens for amblyopia risk if the cornea is affected. Cleveland Clinic

  5. Speech-language – Early screen for resonance and articulation problems in cleft palate; directs therapy. Orpha

C) Laboratory / pathological / genetic 

  1. Targeted gene testing for CDH1 and CTNND1 – Confirms diagnosis and informs recurrence risk; the hallmark lab test in suspected BCD. PubMed

  2. Sequencing with deletion/duplication analysis – Detects small and large changes that standard sequencing might miss. PubMed

  3. Trio testing (child + parents) – Distinguishes inherited vs. de novo variants and can uncover parental mosaicism. Genetic Rare Diseases Center

  4. Exome/genome sequencing if initial panel is negative – Useful when features are suggestive but targeted tests are unrevealing. (General genetics approach; applied when BCD is suspected.) Genetic Rare Diseases Center

  5. Dental material analysis (as needed) – If teeth are extracted, pathology can document enamel/dentin defects to guide restorations. (Adjunctive dental practice.) Genetic Eye Diseases Database

D) Electrodiagnostic 

  1. Facial nerve conduction / blink reflex – Consider only if ectropion severity seems out of proportion and a facial nerve problem is suspected (e.g., acquired palsy). Typically normal in BCD. (Electrodiagnostics are for exclusion, not routine.) Cleveland Clinic

  2. Electroretinography or visual evoked potentials – Reserved for unusual cases with suspected retinal/optic pathway issues; not standard for BCD, but can rule out other ocular disorders if vision is . (General ophthalmic practice.) Cleveland Clinic

E) Imaging 

  1. Dental panoramic (OPG) – Maps missing/impacted teeth, root shape, and helps plan orthodontics/implants. Genetic Eye Diseases Database

  2. Cephalometric radiographs / craniofacial (as needed) – Define cleft pattern, maxillary growth, and surgical planning. is added only for rare associated spinal findings. Orpha+1

Non-pharmacological treatments (therapies & other supports)

  1. Eye lubrication routine (daytime artificial tears + nighttime ointment).
    What it does: Keeps the eye surface wet, reduces burning, redness, and risk of scratches.
    Purpose: Replace the missing protection from a turned-out lid.
    How it works: Tears and gel/ointment form a protective film that lowers friction and evaporation so the cornea stays smooth and clear. Regular, frequent use is more important than brand; put drops by day and thicker ointment before sleep to prevent overnight exposure. (Combine with lid taping at night if needed; see below.) Evidence and expert guidance emphasize ocular-surface protection as first-line care in congenital ectropion and lagophthalmos. Genetic Eye Diseases Database+1

  2. Nighttime eyelid taping or moisture-chamber goggles.
    Purpose: Keep the eye closed during sleep to stop drying.
    Mechanism: Gentle medical tape or a soft moisture shield reduces air flow and exposure; this preserves the tear film and prevents morning corneal damage in people who cannot fully close the eye. Use skin-safe tape and check with ophthalmology for technique. Genetic Eye Diseases Database

  3. Warm compresses and lid hygiene.
    Purpose: Soothe the exposed lid margin and support any remaining oil glands.
    Mechanism: Warmth loosens thick oils; gentle cleansing removes crusts and bacteria, helping comfort and tear-film stability. (In some related syndromes meibomian glands may be reduced or absent; hygiene still helps the lid margin stay clean.) PMC+1

  4. Punctal occlusion (temporary plugs).
    Purpose: Keep tears on the eye longer when dryness persists.
    Mechanism: Soft silicone plugs placed by an eye doctor reduce tear drainage so natural and artificial tears last longer on the surface. This can be a bridge while planning surgery. EyeWiki

  5. Scleral contact lenses (specialist-fitted).
    Purpose: Create a liquid “bath” over the cornea for comfort and clear vision.
    Mechanism: A large rigid lens vaults over the cornea and holds sterile saline against the eye all day, shielding it from air and friction—useful when lids cannot protect the eye well. EyeWiki

  6. Sun- and wind-protection (wraparound glasses; humidifier).
    Purpose: Reduce evaporation and irritation outdoors and in dry rooms.
    Mechanism: Physical barriers keep air from stripping the tear film; room humidifiers raise moisture to protect the cornea.

  7. Speech-language therapy (post-cleft repair).
    Purpose: Improve speech clarity and feeding skills in children with cleft palate history.
    Mechanism: Regular exercises target velopharyngeal function and articulation patterns that can be affected by early palate differences. Orpha

  8. Feeding support in infancy (cleft-adapted bottles, positioning).
    Purpose: Achieve safe nutrition before and after palate repair.
    Mechanism: Special nipples/bottles and upright positioning compensate for impaired suction across a palatal gap, reducing aspiration and improving weight gain. Orpha

  9. Early dental/orthodontic care (sealants, space maintenance).
    Purpose: Protect fragile enamel, guide bite and spacing, and plan for missing or conical teeth.
    Mechanism: Preventive sealants and fluoride strengthen enamel; interceptive orthodontics manages spacing until prosthetic solutions are ready. Orpha

  10. Psychosocial support and family counseling.
    Purpose: Support confidence, schooling, and family coping around visible differences and surgeries.
    Mechanism: Counseling, peer groups, and school coordination reduce anxiety and improve to care plans.

  11. Scar care and sun protection after cleft surgery.
    Purpose: Optimize scar appearance and comfort.
    Mechanism: Silicone gel/sheets and SPF minimize hypertrophic change and discoloration.

  12. Multidisciplinary cleft/craniofacial team follow-up.
    Purpose: Coordinate eye, cleft, dental, hearing, and genetic needs through growth.
    Mechanism: Scheduled visits align procedures and therapies for best long-term function. Orpha

  13. Genetic counseling.
    Purpose: Explain inheritance, recurrence risk, and options for family planning.
    Mechanism: Pedigree review and education for autosomal-dominant disorders. Orpha

  14. Hearing checks and ENT support.
    Purpose: Detect middle-ear problems common with cleft palate.
    Mechanism: Tympanometry and audiology guide early tube placement if needed. Orpha

  15. Eye-safe hygiene and avoidance.
    Purpose: Reduce conjunctival infections on an exposed surface.
    Mechanism: Hand hygiene, clean towels, and early assessment for redness/discharge.

  16. Physiotherapy for facial closure practice (as advised by specialists).
    Purpose: Help comfortable eyelid closure when possible.
    Mechanism: Gentle, guided exercises under clinician advice.

  17. Nutritional guidance for enamel and wound healing.
    Purpose: Support healthy teeth and surgical recovery.
    Mechanism: Adequate protein, vitamins A/C/D/K2, calcium, and hydration.

  18. School care plan for eye drops and sun safety.
    Purpose: Keep routines during the day.
    Mechanism: Written plan with teachers and the school nurse.

  19. Regular photography and vision checks.
    Purpose: Track exposure spots, corneal clarity, and lid position over time.
    Mechanism: Baseline photos and periodic exams catch changes early.

  20. plan for corneal injuries.
    Purpose: Treat scratches/ulcers quickly.
    Mechanism: Know which clinic to call and the warning signs (, , sudden blur).


Drug treatments

Important: No medicine “cures” the genetic syndrome. These medicines treat symptoms and complications (dry eye from exposure, surface , infection prevention/treatment, peri-surgical care). Always use under a clinician’s guidance, especially in infants/children.

  1. Cyclosporine ophthalmic emulsion 0.05% (brand: RESTASIS; multiple generics).
    Class: Topical immunomodulator (calcineurin inhibitor). Dose/Time: 1 drop in each eye twice daily, ~12 hours apart. Purpose: Boost basal tear production in inflammatory dry eye that often accompanies exposure. Mechanism: Lowers T-cell–mediated inflammation in lacrimal functional unit, allowing tear production to recover. Side effects: Burning on instillation; less commonly redness, discharge, tearing, stinging, blur. Evidence is from FDA labeling for dry eye; use is off-label to support exposed corneas in ectropion. FDA Access Data

  2. Lifitegrast ophthalmic solution 5% (brand: Xiidra; generics).
    Class: LFA-1/ICAM-1 antagonist ( for dry eye). Dose/Time: 1 drop twice daily, ~12 hours apart. Purpose: Reduce signs/symptoms of inflammatory dry eye that worsen exposure keratopathy. Mechanism: Blocks T-cell adhesion/activation in ocular surface inflammation. Side effects: Transient irritation, taste disturbance (dysgeusia). FDA Access Data+1

  3. Moxifloxacin 0.5% ophthalmic (brands: VIGAMOX/Moxeza).
    Class: Fluoroquinolone eye drop. Dose/Time: Per label (e.g., 1 drop 3×/day for 7 days in bacterial conjunctivitis). Purpose: Treat bacterial conjunctivitis or corneal abrasion-associated infection risk in an exposed eye. Mechanism: Inhibits DNA gyrase/topoisomerase IV. Side effects: Local irritation; avoid unnecessary use to limit resistance. FDA Access Data+1

  4. Fluorometholone 0.1% ophthalmic (FML/Flarex).
    Class: Topical corticosteroid. Dose/Time: Short courses as prescribed for sterile inflammation; then taper. Purpose: Calm surface inflammation from chronic exposure (specialist-directed). Mechanism: Down-regulates inflammatory cytokines. Side effects: Increased intraocular pressure, cataract risk, infection masking—use with monitoring. FDA Access Data+1

  5. Erythromycin ophthalmic ointment (clinical common practice; use an FDA-listed ophthalmic brand/label in your region).
    Class: Macrolide antibiotic ointment. Dose/Time: Thin ribbon in the lower fornix 2–4×/day when infection risk is high (e.g., exposure, abrasions). Purpose: Lubricating antibiotic barrier at night. Mechanism: Inhibits bacterial protein synthesis. Side effects: Temporary blur, irritation. (Note: Use an ophthalmic-specific label; topical skin products are not for eyes.) FDA Access Data

  6. Acetaminophen (paracetamol) oral/IV (age-appropriate formulations).
    Class: Analgesic/antipyretic. Dose/Time: Weight-based; do not exceed total daily maximum per label. Purpose: Control pain after cleft surgery or dental work. Mechanism: Central COX modulation. Side effects: Hepatotoxicity if overdosed; check all combination products. FDA Access Data+1

  7. Ibuprofen oral suspension (pediatric, over-the-counter strength).
    Class: NSAID. Dose/Time: Weight-based every 6–8 hours with food, not for very young infants unless directed. Purpose: Pain and inflammation relief after procedures. Mechanism: COX-1/COX-2 inhibition. Side effects: GI upset, rare kidney effects; avoid in dehydration. FDA Access Data+1

  8. Amoxicillin oral suspension or tablets (peri-operative/ENT/dental indications as prescribed).
    Class: Aminopenicillin antibiotic. Dose/Time: Weight-based course per indication. Purpose: Treat ENT, dental, or postoperative infections when indicated. Mechanism: Inhibits bacterial cell wall synthesis. Side effects: Rash, diarrhea; avoid with severe β-lactam allergy. FDA Access Data

  9. Fluticasone propionate nasal spray (representative intranasal corticosteroid label).
    Class: Intranasal steroid. Dose/Time: Once or twice daily per label. Purpose: Reduce nasal mucosal swelling that can worsen mouth-breathing and dryness after cleft repairs/ENT issues. Mechanism: Local anti-inflammatory effect. Side effects: Local irritation, epistaxis.

  10. Chlorhexidine gluconate 0.12% oral rinse (Peridex/Periogard).
    Class: Antimicrobial mouthwash. Dose/Time: Rinse as directed for gingivitis control in high-risk dentition (conical/missing teeth). Purpose: Reduce plaque/gingivitis during orthodontic or prosthetic phases. Mechanism: Disrupts bacterial cell membranes. Side effects: Tooth staining, taste changes; do not swallow. FDA Access Data+1

  11. Topical fluoride varnish (5% NaF; device/510(k) cleared).
    Class: Topical dental fluoride. Use: Applied in the dental clinic at intervals. Purpose: Remineralize enamel, reduce sensitivity, and protect high-risk teeth. Mechanism: Fluoride enhances enamel resistance to acid. Notes: Regulated as a device; labeling varies by product. FDA Access Data+1

  12. Short-course topical antibiotic/steroid combinations (specialist-directed when clearly indicated).
    Purpose/Mechanism: Reduce mixed inflammation and bacterial load in acute flares; Risks: pressure rise, fungal/viral masking—use only under ophthalmology.

(Items typically repeat the above classes in age-appropriate brands and formulations; in this condition, drug therapy is supportive, not disease-modifying. Your clinicians will select from these labeled medicines based on age, severity, and surgery timing.)


Dietary molecular supplements

Supplements never replace medical/surgical care, but can support wound healing, enamel strength, and ocular surface health when diet is insufficient.

  1. Vitamin A (retinol/beta-carotene).
    Dose: As advised; avoid excess. Function: Supports corneal epithelium and immune defense. Mechanism: Regulates epithelial differentiation and mucin gene expression that protect the ocular surface.

  2. Vitamin D3.
    Dose: Per blood levels and age guidelines. Function: Bone/teeth mineralization and immune modulation. Mechanism: Enhances calcium absorption; affects innate immunity.

  3. Vitamin C.
    Dose: Daily RDA or peri-operative higher (as advised). Function: Collagen synthesis for wound healing and scar quality. Mechanism: Cofactor for prolyl/lysyl hydroxylases.

  4. Vitamin K2 (MK-7).
    Dose: Typical daily supplemental range under clinician advice. Function: Directs calcium to bones/teeth. Mechanism: γ-carboxylation of osteocalcin and MGP.

  5. Calcium.
    Dose: Age-appropriate daily intake. Function: Tooth/bone strength. Mechanism: Mineral substrate for hydroxyapatite.

  6. Magnesium.
    Dose: RDA-based. Function: Enamel/bone metabolism cofactor. Mechanism: Enzyme activation and mineral homeostasis.

  7. Omega-3 fatty acids (EPA/DHA).
    Dose: Typical 500–1000 mg/day combined EPA/DHA in older children/adults (ask pediatrician for child dosing). Function: Support tear-film lipid layer and calm surface inflammation. Mechanism: Pro-resolving lipid mediators in ocular surface.

  8. Zinc.
    Dose: RDA-based. Function: Epithelial repair and immune support. Mechanism: Enzymatic cofactor in DNA synthesis/wound repair.

  9. Probiotics (e.g., Lactobacillus/Bifidobacterium).
    Dose: Per product. Function: Gut support during/after antibiotics and peri-operative periods. Mechanism: Microbiome modulation.

  10. Collagen/gelatin with vitamin C (peri-operative).
    Dose: As advised short-term around surgery. Function: Scar and tissue repair support. Mechanism: Provides amino acids for collagen formation, with vitamin C as cofactor.


  1. Autologous serum eye drops (specialist compounded).
    Dose: Several times daily per protocol. Function: Supplies growth factors and vitamins similar to natural tears. Mechanism: Patient’s serum acts as a biologic tear substitute to heal persistent epithelial defects.

  2. Platelet-rich plasma (PRP) eye drops (compounded).
    Function: Adds concentrated growth factors. Mechanism: Platelet-derived factors stimulate epithelial repair on the cornea.

  3. Amniotic membrane grafts (suture or self-retaining).
    Function: Biological bandage for non-healing corneal defects. Mechanism: Anti-inflammatory, pro-healing basement membrane.

  4. Limbal stem-cell–supportive care (when deficiency suspected).
    Function: Protect and stabilize limbal niche. Mechanism: Aggressive lubrication, bandage lenses, and staged surgery prevent stem-cell loss.

  5. Nutritional immune support (vitamin D, zinc, omega-3s as above).
    Function/Mechanism: Modulate innate/adaptive immunity and inflammation.

  6. Future gene-directed counseling (family planning).
    Function: Reduces recurrence risk via informed choices. Mechanism: Uses confirmed autosomal-dominant inheritance knowledge. Orpha


Surgeries (what they are & why done)

  1. Lower-lid ectropion repair (canthoplasty/canthopexy, skin-muscle tightening, or grafts).
    Why: Turn the lid back inward so it touches the eye, protecting the cornea and improving tear distribution. Procedure: Tailored to anatomy; may tighten the outer lid corner and add/redistribute skin or support tissues. AJO

  2. Temporary tarsorrhaphy (partial eyelid closure).
    Why: Emergency or interim protection for a dangerously exposed cornea. Procedure: Sutures bring lids partially together to reduce exposure while healing occurs.

  3. Cleft lip repair (cheiloplasty).
    Why: Restore lip seal for feeding, speech, and appearance. Procedure: Performed in infancy; reconstructs muscle continuity and symmetry.

  4. Cleft palate repair (palatoplasty).
    Why: Separate mouth and nose cavities for normal speech and feeding. Procedure: Usually in the first year or so; sometimes staged; may need later speech surgery. Orpha

  5. Alveolar bone grafting and later orthognathic/dental prosthetic surgery.
    Why: Stabilize the dental arch, allow tooth eruption/implants, and correct jaw alignment for function and appearance. Procedure: Grafts placed in the gum ridge; later orthodontic and prosthetic steps complete the bite. Orpha


Preventions

  1. Keep to a daily lubrication plan (drops by day, ointment by night).

  2. Use wraparound sunglasses/wind shields outdoors.

  3. Run a humidifier in dry rooms, especially during sleep.

  4. Do not rub eyes; use clean tissues and hand hygiene.

  5. School/day-care plan for drops, sun safety, and eye protection.

  6. Prompt care for red, painful, or light-sensitive eyes.

  7. Dental checkups every 3–6 months with fluoride/pro sealants.

  8. Nutrient-dense diet for enamel and wound healing.

  9. Speech therapy follow-through after cleft repair.

  10. Family genetic counseling before future pregnancies. Orpha+1


When to see doctors (red flags)

  • Eye pain, light sensitivity, sudden blur, or white spot on the cornea (possible abrasion/ulcer).

  • Persistent redness or discharge unresponsive to lubrication.

  • Inability to close the eye or worsening outward lid droop.

  • Feeding trouble, poor weight gain, nasal regurgitation in infants with cleft palate.

  • Speech concerns or nasal voice after repair.

  • Tooth pain, enamel chips, bleeding gums, or lost space/retainers.

  • Hearing problems (ear fluid/infections).
    These signs need same-day or timely specialist assessment. Orpha


What to eat” and “what to avoid

Eat more:

  1. Soft, protein-rich foods after surgery (eggs, yogurt, dal, fish).

  2. Vitamin-C fruits/veg (guava, oranges, bell pepper) for wound healing.

  3. Dairy/fortified alternatives for calcium + vitamin D (milk, curd, soy).

  4. Leafy greens for K, magnesium, and minerals.

  5. Omega-3 sources (fish, flax, walnuts) for surface inflammation.

Avoid/limit:

  1. Hard, sticky candies that crack enamel or pull appliances.
  2. Sugary snacks/drinks between meals (cavity risk).
  3. Very hot/spicy foods right after oral surgery.
  4. Dehydration—drink water regularly for tear and mucus layers.
  5. Excess supplements—more is not better; follow doses.

FAQs

1) Is BCD syndrome the same as “ectropion + cleft lip/palate” syndrome?
It’s the most consistent match: BCD combines lower-lid ectropion with cleft lip ± palate and dental changes. Clinicians confirm by exam and genetics. Orpha

2) What causes it?
Most cases are genetic and inherited in an autosomal-dominant pattern—one affected parent can pass it on. Gene panels help confirm. Orpha

3) Can eye drops cure the lid problem?
Drops protect the surface but don’t move the lid. Surgery is often needed to restore lid-to-eye contact for lasting protection. AJO

4) Will vision be normal?
With early protection of the cornea, regular exams, and timely surgery, many people keep good vision. Delays increase risk of scars or infection.

5) What age is best for cleft repairs?
Lip repair is usually in early infancy; palate within the first year or so, with team-specific timing. Your cleft team will individualize. Orpha

6) Why do eyes feel dry even with tears?
Exposure and poor eyelid closure let tears evaporate fast; inflammation also lowers natural tear quality. Anti-inflammatory drops can help. FDA Access Data+1

7) Are scleral lenses safe for kids?
In specialist hands and with hygiene, they can be very helpful for severe exposure; fitting and follow-up are key. EyeWiki

8) What dental issues should we expect?
Conical, missing, or weak enamel teeth are common; early dental prevention, fluoride, and orthodontics reduce long-term problems. Orpha

9) Will my child need multiple surgeries?
Often yes: cleft lip/palate repairs, possible lid surgery, later dental/alveolar grafting or jaw procedures, and speech steps over time. Orpha

10) Can we prevent eye infections?
Yes—lubrication, hygiene, and seeking care early for redness or pain. Antibiotics are for proven infections, not routine long-term use. FDA Access Data

11) Are there special school precautions?
Have a plan for eye drops, sun/wind protection, and safe play; teachers should know when to call parents for eye symptoms.

12) Does screen time worsen dryness?
Long staring reduces blinking. Take “20-20-20” breaks and use drops as advised.

13) Could there be hearing problems?
Cleft palate raises risk of middle-ear fluid and infections; regular audiology checks help. Orpha

14) Is genetic counseling useful if no one else in the family is affected?
Yes. New (de novo) variants can occur; counseling explains recurrence risks and testing options. Orpha

15) What’s the long-term outlook?
With coordinated team care, most people do well—seeing, speaking, eating, and smiling more comfortably. Lifelong check-ups keep problems small.

Disclaimer: Each person’s journey is unique, treatment planlife stylefood habithormonal conditionimmune systemchronic 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.

  1. Rare Diseases and Medical Genetics.[rxharun.com]
  2. i2023_IFPMA_Rare_Diseases_Brochure_28Feb2017_FINAL.[rxharun.com]
  3. the-UK-rare-diseases-framework.[rxharun.com]
  4. National-Recommendations-for-Rare-Disease-Health-Care-Summary.[rxharun.com]
  5. History of rare diseases and their genetic.[rxharun.com]
  6. health-care-and-rare-disorders.[rxharun.com]
  7. Rare Disease Registries.[rxharun.com]
  8. autoimmune-Rare-Genetic-Diseases.[rxharun.com]
  9. Rare Genetic Diseases.[rxharun.com]
  10. rare-disease-day.[rxharun.com]
  11. Rare_Disease_Drugs_e.[rxharun.com]
  12. fda-CDER-Rare-Diseases-Public-Workshop-Master.[rxharun.com]
  13. rare-and-inherited-disease-eligibility-criteria.[rxharun.com]
  14. FDA-rare-disease-list.pdf-rxharun.com1 Human-Gene-Therapy-for-Rare Diseases_Jan_2020fda.[rxharun.com]
  15. FDA-rare-disease-lists.[rxharun.com]
  16. 30212783fnl_Rare Disease.[rxharun.com]
  17. FDA-rare-disease-list.[rxharun.com]
  18. List of rare disease.[rxharun.com]
  19. Genome Res.-2025-Steyaert-755-68.[rxharun.com]
  20. uk-practice-guidelines-for-variant-classification-v4-01-2020.[rxharun.com]
  21. PIIS2949774424010355.[rxharun.com]
  22. hidden-costs-2016.[rxharun.com]
  23. B156_CONF2-en.[rxharun.com]
  24. IRDiRC_State-of-Play-2018_Final.[rxharun.com]
  25. IRDR_2022Vol11No3_pp96_160.[rxharun.com]
  26. from-orphan-to-opportunity-mastering-rare-disease-launch-excellence.[rxharun.com]
  27. Rare disease fda.[rxharun.com]
  28. England-Rare-Diseases-Action-Plan-2022.[rxharun.com]
  29. SCRDAC 2024 Report.[rxharun.com]
  30. CORD-Rare-Disease-Survey_Full-Report_Feb-2870-2.[rxharun.com]
  31. Stats-behind-the-stories-Genetic-Alliance-UK-2024.[rxharun.com]
  32. rare-and-inherited-disease-eligibility-criteria-v2.[rxharun.com]
  33. ENG_White paper_A4_Digital_FINAL.[rxharun.com]
  34. UK_Strategy_for_Rare_Diseases.[rxharun.com]
  35. MalaysiaRareDiseaseList.[rxharun.com]
  36. EURORDISCARE_FULLBOOKr.[rxharun.com]
  37. EMHJ_1999_5_6_1104_1113.[rxharun.com]
  38. national-genomic-test-directory-rare-and-inherited-disease-eligibilitycriteria-.[rxharun.com]
  39. be-counted-052722-WEB.[rxharun.com]
  40. RDI-Resource-Map-AMR_MARCH-2024.[rxharun.com]
  41. genomic-analysis-of-rare-disease-brochure.[rxharun.com]
  42. List-of-rare-diseases.[rxharun.com]
  43. RDI-Resource-Map-AFROEMRO_APRIL[rxharun.com]
  44. rdnumbers.[rxharun.com] .
  45. Rare disease atoz .[rxharun.com]
  46. EmanPublisher_12_5830biosciences-.[rxharun.com]

  1. https://www.ncbi.nlm.nih.gov/books/NBK208609/
  2. https://pmc.ncbi.nlm.nih.gov/articles/PMC6279436/
  3. https://rarediseases.org/rare-diseases/
  4. https://rarediseases.info.nih.gov/diseases
  5. https://en.wikipedia.org/w/index.php?title=Category:Rare_diseases
  6. https://en.wikipedia.org/wiki/List_of_genetic_disorders
  7. https://en.wikipedia.org/wiki/Category:Genetic_diseases_and_disorders
  8. https://medlineplus.gov/genetics/condition/
  9. https://geneticalliance.org.uk/support-and-information/a-z-of-genetic-and-rare-conditions/
  10. https://www.fda.gov/patients/rare-diseases-fda
  11. https://www.fda.gov/science-research/clinical-trials-and-human-subject-protection/support-clinical-trials-advancing-rare-disease-therapeutics-start-pilot-program
  12. https://accp1.onlinelibrary.wiley.com/doi/full/10.1002/jcph.2134
  13. https://www.mayoclinicproceedings.org/article/S0025-6196%2823%2900116-7/fulltext
  14. https://www.ncbi.nlm.nih.gov/mesh?
  15. https://www.rarediseasesinternational.org/working-with-the-who/
  16. https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03322-7
  17. https://www.rarediseasesnetwork.org/
  18. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/rare-disease
  19. https://www.raregenomics.org/rare-disease-list
  20. https://www.astrazeneca.com/our-therapy-areas/rare-disease.html
  21. https://bioresource.nihr.ac.uk/rare
  22. https://www.roche.com/solutions/focus-areas/neuroscience/rare-diseases
  23. https://geneticalliance.org.uk/support-and-information/a-z-of-genetic-and-rare-conditions/
  24. https://www.genomicsengland.co.uk/genomic-medicine/understanding-genomics/rare-disease-genomics
  25. https://www.oxfordhealth.nhs.uk/cit/resources/genetic-rare-disorders/
  26. https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01026
  27. https://wikicure.fandom.com/wiki/Rare_Diseases
  28. https://www.wikidoc.org/index.php/List_of_genetic_disorders
  29. https://www.medschool.umaryland.edu/btbank/investigators/list-of-disorders/
  30. https://www.orpha.net/en/disease/list
  31. https://www.genetics.edu.au/SitePages/A-Z-genetic-conditions.aspx
  32. https://ojrd.biomedcentral.com/
  33. https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/rare-diseases_en
  34. https://bioportal.bioontology.org/ontologies/ORDO
  35. https://www.orpha.net/en/disease/list
  36. https://www.fda.gov/industry/medical-products-rare-diseases-and-conditions
  37. https://www.gao.gov/products/gao-25-106774
  38. https://www.gene.com/partners/what-we-are-looking-for/rare-diseases
  39. https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders
  40. https://geneticalliance.org.uk/support-and-information/a-z-of-genetic-and-rare-conditions/
  41. https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders
  42. https://globalgenes.org/rare-disease-facts/
  43. https://www.nidcd.nih.gov/directory/national-organization-rare-disorders-nord
  44. https://byjus.com/biology/genetic-disorders/
  45. https://www.cdc.gov/genomics-and-health/about/genetic-disorders.html
  46. https://www.genomicseducation.hee.nhs.uk/doc-type/genetic-conditions/
  47. https://www.thegenehome.com/basics-of-genetics/disease-examples
  48. https://www.oxfordhealth.nhs.uk/cit/resources/genetic-rare-disorders/
  49. https://www.pfizerclinicaltrials.com/our-research/rare-diseases
  50. https://clinicaltrials.gov/ct2/results?recrs
  51. https://apps.who.int/gb/ebwha/pdf_files/EB116/B116_3-en.pdf
  52. https://stemcellsjournals.onlinelibrary.wiley.com/doi/10.1002/sctm.21-0239
  53. https://www.nibib.nih.gov/
  54. https://www.nei.nih.gov/
  55. https://oxfordtreatment.com/
  56. https://www.nidcd.nih.gov/health/https://consumer.ftc.gov/articles/
  57. https://www.nccih.nih.gov/health
  58. https://catalog.ninds.nih.gov/
  59. https://www.aarda.org/diseaselist/
  60. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets
  61. https://www.nibib.nih.gov/
  62. https://www.nia.nih.gov/health/topics
  63. https://www.nichd.nih.gov/
  64. https://www.nimh.nih.gov/health/topics
  65. https://www.nichd.nih.gov/
  66. https://www.niehs.nih.gov/
  67. https://www.nimhd.nih.gov/
  68. https://www.nhlbi.nih.gov/health-topics
  69. https://obssr.od.nih.gov/.
  70. https://www.nichd.nih.gov/health/topics
  71. https://rarediseases.info.nih.gov/diseases
  72. https://beta.rarediseases.info.nih.gov/diseases
  73. https://orwh.od.nih.gov/

 

RX Clinical Pathway Engine

Continue through a complete learning pathway

Move from understanding the topic to symptoms, tests, treatment, medicines, monitoring, and prevention.

Search the complete library
  1. Understand the condition Begin with the essential facts and a clear explanation of the topic.
  2. Recognize symptoms Learn common symptoms, signs, and patterns of presentation.
  3. Know when to seek help Review urgent warning signs and when professional assessment may be needed.
  4. Understand causes and risks Explore causes, risk factors, mechanisms, and contributing conditions.
  5. Explore tests and diagnosis Learn how clinicians assess the condition and which investigations may be discussed.
  6. Learn treatment approaches Review general treatment categories and management principles.
  7. Understand medicines safely Continue to medicine education, uses, precautions, and monitoring.
  8. Plan monitoring and follow-up Understand monitoring, complications, rehabilitation, and follow-up learning.
  9. Review prevention and self-care Explore prevention, healthy routines, and questions to discuss with a clinician.

Conditions & Diseases

Background, symptoms, causes, diagnosis, and care.

Explore this library

Tests & Investigations

Laboratory, imaging, screening, and diagnostic education.

No strong indexed relationship is available yet.

Explore this library
Doctor visit helper

Prepare before seeing a doctor

A simple rural-patient checklist to help you explain symptoms clearly, ask better questions, and avoid unsafe self-treatment.

Safety note: This is not a prescription or diagnosis. For severe symptoms, pregnancy danger signs, children with serious illness, chest pain, breathing difficulty, stroke-like weakness, or major injury, seek urgent care.

Which doctor may help?

Start with a registered doctor or the nearest qualified health center.

What to tell the doctor

  • Write when the problem started and how it changed.
  • Bring old prescriptions, investigation reports, and current medicines.
  • Write allergies, pregnancy status, diabetes, kidney/liver disease, and major past illnesses.
  • Bring one family member if the patient is weak, elderly, confused, or a child.

Questions to ask

  • What is the most likely cause of my symptoms?
  • Which danger signs mean I should go to hospital quickly?
  • Which tests are necessary now, and which can wait?
  • How should I take medicines safely and what side effects should I watch for?
  • When should I come for follow-up?

Tests to discuss

  • Vital signs: temperature, pulse, blood pressure, oxygen saturation
  • Basic physical examination by a clinician
  • CBC, urine test, blood sugar, or imaging only when clinically needed

Avoid these mistakes

  • Do not use antibiotics, steroid tablets/injections, or strong painkillers without proper medical advice.
  • Do not hide pregnancy, kidney disease, ulcer, allergy, or blood thinner use.
  • Do not delay emergency care when danger signs are present.

Medicine safety and first-aid guide

This section is for patient education only. It does not replace a doctor, pharmacist, or emergency care.

Safe first steps

  • Avoid heavy lifting, sudden bending, and prolonged bed rest.
  • Use comfortable posture and gentle movement as tolerated.
  • Discuss physiotherapy, X-ray, or MRI only when clinically needed.

OTC medicine safety

  • For mild back pain, pain-relief medicine may be discussed with a doctor or pharmacist.
  • Avoid repeated painkiller use if you have kidney disease, stomach ulcer, uncontrolled blood pressure, or are taking blood thinners.

Avoid these mistakes

  • Do not start antibiotics without a proper medical decision.
  • Do not use steroid tablets or injections casually for quick relief.
  • Do not delay emergency care because of home remedies.

Get urgent help if

  • Back pain with leg weakness, numbness around private area, loss of urine/stool control, fever, cancer history, or major injury needs urgent care.
Medicine names, dose, and timing must be decided by a qualified clinician or pharmacist after checking age, pregnancy, allergy, other diseases, and current medicines.

For rural patients and family caregivers

Patient health record and symptom diary

Write your symptoms, medicines already taken, test results, and questions before visiting a doctor. This note stays on your device unless you print or copy it.

Doctor to discuss: Doctor / qualified healthcare provider
Tests to discuss with doctor
  • Basic vital signs: temperature, pulse, blood pressure, oxygen level if needed
  • Relevant blood, urine, imaging, or specialist tests only after clinical assessment
Questions to ask
  • What is the most likely cause of my symptoms?
  • Which warning signs mean I should go to emergency care?
  • Which tests are really needed now?
  • Which medicines are safe for my age, pregnancy status, allergy, kidney/liver/stomach condition, and current medicines?

Emergency warning signs such as chest pain, severe breathing difficulty, sudden weakness, confusion, severe dehydration, major injury, or loss of bladder/bowel control need urgent medical care. Do not wait for online information.

Safe pathway to proper treatment

Care roadmap for: Ectropion Inferior–Cleft Lip and/or Palate Syndrome

Use this simple roadmap to understand the next safe steps. It is educational and does not replace examination by a doctor.

Go to emergency care if you notice:
  • Severe or rapidly worsening symptoms
  • Breathing difficulty, chest pain, fainting, confusion, severe weakness, major injury, or severe dehydration
Doctor / service to discuss: Qualified healthcare provider; specialist depends on symptoms and examination.
  1. Step 1

    Check danger signs first

    If danger signs are present, seek emergency care and do not wait for online information.

  2. Step 2

    Record the symptom story

    Write when symptoms started, severity, medicines already taken, allergies, pregnancy status, and test results.

  3. Step 3

    Visit a qualified clinician

    A doctor, nurse, or qualified healthcare provider can examine you and decide which tests or treatment are needed.

  4. Step 4

    Do only useful tests

    Do tests after clinical assessment. Avoid unnecessary tests, random antibiotics, or repeated medicines without diagnosis.

  5. Step 5

    Follow up and return early if worse

    If symptoms worsen, new warning signs appear, or treatment is not helping, return for review quickly.

Rural patient practical tips
  • Take a written symptom diary and all previous prescriptions/test reports.
  • Do not hide medicines already taken, even herbal or over-the-counter medicines.
  • Ask which warning signs mean urgent referral to hospital.

This roadmap is for education. A real diagnosis and treatment plan requires history, examination, and clinical judgment.

Internal learning pathway

Explore related RX articles

Related guides from RX Harun are grouped to help readers move from overview to symptoms, tests, treatment, and safe next steps.

Rx ENT, Oral and Dental Health (A - Z)
  1. Enlarged Nasopharyngeal Tonsil DefinitionEnlarged nasopharyngeal tonsil means the adenoid has become bigger than normal. The adenoid is a patch…
  2. Enlarged Adenoids DefinitionEnlarged adenoids mean the adenoid tissue at the back of the nose has become bigger than…
  3. Adenoid Hypertrophy DefinitionAdenoid hypertrophy? means the adenoids are bigger than normal. The adenoids are soft lymph tissue at…
  4. Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome DefinitionCongenital? cataracts-facial dysmorphism-neuropathy? syndrome? is a very rare inherited? disorder. Doctors also call it CCFDN syndrome…
  5. Isolated Congenital Anosmia DefinitionIsolated congenital? anosmia means a person is born with little or no sense of smell, and…
  6. Congenital Anosmia DefinitionCongenital? anosmia means a person is born with no sense of smell. The smell loss is…