Auricular Abnormalities–Cleft Lip (with or without Cleft Palate)–Ocular Abnormalities Syndrome

Auricular Abnormalities–Cleft Lip (with or without Cleft Palate)–Ocular Abnormalities Syndrome is a very rare birth condition in which a child has three main groups of findings at the same time: (1) ear problems (for example, unusual outer ear shape, small ears, or tiny skin pits behind the ear), (2) cleft lip with or without cleft palate (a split in the upper lip and sometimes an opening in the roof of the mouth), and (3) eye problems (for example, short-sightedness/myopia, rapid eye shaking/nystagmus, or changes in the retina). Doctors first described this combination in two siblings and considered it a new syndrome; since then, rare-disease registries have listed it as a multiple-anomaly genetic condition. Because cases are very few, doctors use knowledge from closely related craniofacial syndromes to guide care. PubMed+2GARD Information Center+2

This is an extremely rare, newly described pattern of birth differences where three features occur together in the same person or family: (1) problems with the outer ears (auricular abnormalities), such as unusual ear shape, small or missing ear canal, or small pits or tags behind the ear; (2) a cleft lip, sometimes with a cleft palate and sometimes without; and (3) eye problems, most often severe short-sightedness (myopia), shaking or “dancing” eyes (nystagmus), and changes in the colored layer at the back of the eye (retinal pigment). Because so few patients have been reported, doctors treat it as a provisionally unique multiple-anomalies syndrome and also check carefully for better-known conditions that can mimic it. GARD Information Center+1

Key idea: this “triad” (ear + cleft lip/palate + ocular findings) has been published in a sibling pair and listed in rare-disease catalogs, but formal diagnostic criteria and a single known gene are not established yet. PubMed+1

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Other names

• “Auricular anomalies–cleft lip (± cleft palate)–ocular anomalies”

• “Auricular abnormalities–CL±P–ocular abnormalities”

• “Provisional ear–cleft–eye syndrome” (descriptive usage in case discussions)

These are descriptive labels used in reports and rare-disease listings rather than official, standardized syndrome names. Orpha

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Types

Because there are no official subtypes, clinicians often group patients by the most affected system. These groupings are practical (to guide testing and care) rather than formal:

1. Ear-predominant type – obvious outer-ear differences (e.g., microtia, atresia/stenosis, post-auricular pits) with milder eye findings and a small cleft. Work-ups focus on audiology and temporal-bone imaging. PMC+1

2. Orofacial-predominant type – more severe cleft lip (with or without cleft palate) and feeding/speech issues; ear and eye changes present but subtler. Multidisciplinary cleft care is central. PMC+1

3. Ocular-predominant type – marked myopia/nystagmus/retinal pigment changes with milder ear and cleft features; requires early pediatric ophthalmology and visual function testing. AAO+1

4. Balanced (triad) type – ear, cleft, and ocular features are all prominent, similar to the original sibling report. PubMed

The ears, lips/palate, and parts of the eyes develop from cranial neural crest cells and nearby embryonic tissues at overlapping times in early pregnancy. When these coordinated steps are disturbed—by changes in genes or by environmental factors—the same baby can have differences in all three areas. This shared developmental origin explains the triad even when a single gene is not yet identified. PMC+2PMC+2

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Causes

Important: Because the specific cause of this exact triad is unknown, the items below summarize plausible mechanisms and look-alike conditions that can produce the same ear/cleft/eye combination. Doctors rule these in or out during evaluation.

1. A brand-new (de novo) genetic change affecting cranial neural crest development. Small errors in genes guiding neural crest cell migration can disrupt ears, lip/palate, and eyes at once. PMC+1

2. Unrecognized single-gene disorders in the differential diagnosis (e.g., TFAP2A in branchio-oculo-facial syndrome), which combines ocular anomalies and orofacial clefting. ScienceDirect+1

3. Oculo-auriculo-vertebral spectrum (Goldenhar)—often includes ear malformations, ocular dermoids/coloboma, and sometimes clefting; needs careful exclusion. Arizona Eye Disorders+1

4. 22q11.2 deletion syndrome (DiGeorge/velocardiofacial spectrum)—can feature ear anomalies, submucous or overt cleft palate, and ocular issues. NCBI+1

5. Treacher Collins syndrome (TCOF1 and related genes)—ear malformations and occasional cleft palate with ocular anomalies; facial bone hypoplasia is typical. MedlinePlus

6. Ectodermal dysplasia with clefting (AEC/Hay-Wells)—affects skin, hair, eyes, ears, and mouth with cleft lip/palate; ocular surface problems are common. MedlinePlus+1

7. Lacrimo-auriculo-dento-digital (LADD) syndrome—ear abnormalities and ocular (lacrimal) issues with oral/teeth anomalies; overlaps in ear/eye involvement. MedlinePlus

8. CHARGE syndrome—can include external ear anomalies, coloboma, and cleft palate; heart/genital anomalies often point to this diagnosis. Rare Diseases

9. Unknown familial syndrome—as in the original sibling report proposing a novel entity with ear differences, CL±P, and ocular pigment changes. PubMed

10. Retinoic acid (isotretinoin) embryopathy—a proven teratogen causing microtia/anotia, cleft palate, and ocular defects when exposure occurs early in pregnancy. New England Journal of Medicine+1

11. Maternal pre-gestational diabetes—raises risk for multiple structural anomalies including oral clefts and ear problems. PLOS+1

12. Other maternal metabolic factors—obesity and hypertension have been linked to higher odds of orofacial clefts in meta-analysis. Nature

13. Environmental chemical exposures that disrupt neural crest development in animal and mechanistic studies. Anatomy Publications

14. Chromosomal copy-number changes beyond 22q11.2 (detected by chromosomal microarray) occasionally present with combined ear/cleft/eye anomalies. (General genomic practice; see 22q11.2 as exemplar.) NCBI

15. Periconceptional folate pathway disturbance—folate is critical for early neural crest and palate formation; deficiency increases risk of clefts (clinically considered, though not specific to ear anomalies). [Background mechanism—commonly referenced in cleft care guidance] PMC

16. Mandibulofacial dysostosis with microcephaly (EFTUD2)—can include microtia/ear canal anomalies and cleft palate with ocular involvement. [Differential considered in genetic panels] PMC

17. Sporadic vascular/placental disruptions in early face development—a proposed mechanism in some hemifacial/ear anomalies (clinically hypothesized in OAVS). UC Davis Health

18. Syndromic nystagmus/retinal disorders presenting with facial differences (ERG/VEP can unmask these and shift diagnosis). PMC+1

19. Undiagnosed mild 22q11.2 in a parent (variable expression), leading to a child with more evident ear/cleft/ocular features. NCBI

20. Multifactorial (polygenic + environment)—the common reality in many craniofacial conditions when targeted testing is unrevealing. [Reflected across cleft and microtia consensus guidance] PMC+1

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Common symptoms and signs

1. Unusual outer-ear shape (microtia, extra cartilage ridges, ear tags/pits) visible at birth; may be one- or two-sided. Hearing pathway may also be affected. PMC

2. Small or closed ear canal (atresia/stenosis) leading to conductive hearing loss; needs early audiology and imaging when surgery is considered. Frontiers

3. Cleft lip (± cleft palate)—gap in the upper lip sometimes extending into the nose; feeding and speech require team-based care from infancy. PMC

4. Submucous cleft palate or velopharyngeal dysfunction—speech hypernasality and ear infections can occur even without an obvious cleft. Boston Children’s Hospital

5. Severe myopia (nearsightedness) in early childhood; glasses and retinal monitoring are important. (Reported in index family.) PubMed

6. Nystagmus (jerky eye movements)—can reduce visual acuity and needs pediatric ophthalmology evaluation and electrophysiology when indicated. AAO+1

7. Retinal pigment changes—documented on eye examination; may relate to visual symptoms and require follow-up. PubMed

8. Conductive or mixed hearing loss—from canal/middle-ear malformations; audiology and imaging guide amplification vs surgery. PMC+1

9. Feeding difficulties in infancy—especially with cleft palate; specialized bottles and feeding therapy may help. PMC

10. Speech articulation problems—related to clefting/velopharyngeal function and hearing status; speech-language therapy is standard. PMC

11. Recurrent ear infections (otitis media)—eustachian tube dysfunction is common with cleft palate; hearing must be monitored. PMC

12. Facial asymmetry or mandibular hypoplasia—may be mild; prompts evaluation for OAVS features. Arizona Eye Disorders

13. Ocular surface problems (dermoids/coloboma in differentials)—need slit-lamp and fundus evaluation to clarify the cause of visual symptoms. UC Davis Health

14. Family history of similar features—as in the sibling report; informs inheritance risk and choice of tests. PubMed

15. Associated anomalies (occasionally)—heart, vertebral, or renal anomalies may appear in look-alike syndromes and will be screened when clinically indicated. Arizona Eye Disorders

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Diagnostic tests

Doctors use these tests to document the triad, measure function (hearing/vision/speech), and exclude mimicking syndromes. Grouped by category:

A) Physical examination (bedside and clinic)

1. Detailed dysmorphology exam of face/ears/lip/palate with standardized photos and measurements; notes tags, pits, canal opening, lip gap, and palatal integrity. PMC+1

2. Orofacial/cleft team assessment (surgeon, ENT, audiology, speech, dentistry, genetics, nursing) to build a shared care plan from birth onward. PMC+1

3. Pediatric ophthalmology exam (visual acuity, refraction for myopia, slit-lamp and dilated fundus exam) to detect nystagmus and retinal pigment changes. American Orthopaedic Association

4. Growth and feeding evaluation (weight gain, feeding technique, airway check) in infants with cleft palate. Children’s Hospital Colorado

5. Family history and three-generation pedigree targeting ear anomalies, clefts, and ocular differences (helps decide on genetic testing). PMC

B) “Manual” bedside tests (simple, hands-on checks)

6. Otoscopy and pneumatic otoscopy to look for canal patency, tympanic membrane, and middle-ear effusion. PMC

7. Tuning-fork tests (Rinne/Weber) in cooperative older children/adults to quickly screen conductive vs sensorineural hearing loss. (Audiology will confirm.) Pediatrics

8. Palatal palpation and mirror nasopharyngoscopy screening for submucous cleft/velopharyngeal gap in clinic. PMC

9. Corneal light reflex and cover–uncover tests for ocular alignment that can worsen vision in children with nystagmus/refractive error. American Orthopaedic Association

10. Bedside visual function checks (fixation, following, face-preference) to triage infants before formal electrodiagnostics. American Orthopaedic Association

C) Laboratory and pathological / genetic tests

11. Chromosomal microarray (CMA) to look for clinically significant deletions/duplications (e.g., 22q11.2). NCBI

12. Syndromic craniofacial gene panel or exome sequencing (includes TFAP2A, TCOF1, EFTUD2, IRF6, and others) to differentiate recognized syndromes from the provisional triad. ScienceDirect+1

13. Targeted 22q11.2 deletion test (if CMA not done or to confirm) when palate/ear findings raise suspicion. NCBI

14. Basic labs as indicated (e.g., nutritional/folate status in broader cleft evaluation; not diagnostic for the triad but part of comprehensive care). PMC

D) Electrodiagnostic tests (objective physiology)

15. Auditory Brainstem Response (ABR)—objective hearing thresholds in infants/young children or when canal/middle-ear malformations are present. Faces of Children+1

16. Distortion-product otoacoustic emissions (DPOAE)—screens cochlear (outer hair cell) function and complements ABR. Pediatrics

17. Electroretinography (ERG)—measures retinal function in children with nystagmus or pigment changes. PMC+1

18. Visual Evoked Potentials (VEP)—assesses visual pathway integrity; useful when visual acuity is hard to measure. American Orthopaedic Association

E) Imaging studies

19. High-resolution CT (HRCT) of the temporal bones—maps external/middle/inner ear anatomy and candidacy for atresia repair or implantable devices. PMC+1

20. MRI brain/internal auditory canals and ophthalmic imaging (OCT/fundus photography)—MRI helps when sensorineural loss is suspected; OCT documents retinal structure. ACR Search+1

Non-pharmacological treatments (therapies & other supports)

1) Coordinated craniofacial team care.
A team clinic organizes all visits so problems are caught early (hearing loss, eye focus, dental alignment, feeding). Regular case conferences align surgery timing with speech, hearing, and growth goals. Purpose: reduce missed issues and improve long-term function. Mechanism: integrated, guideline-informed multidisciplinary follow-up. UC Davis Health

2) Early feeding support for cleft palate.
Special feeders and positioning help babies gain weight and avoid aspiration before surgery. Purpose: safe nutrition and growth. Mechanism: controlled flow nipples and upright posture lessen nasal regurgitation. UC Davis Health

3) Speech-language therapy (infancy → school age).
Early stimulation and later therapy address articulation and resonance once palate is repaired; therapy also monitors language delays from hearing issues. Purpose: intelligible speech and normal language. Mechanism: structured exercises for velopharyngeal function and articulation. UC Davis Health

4) Hearing monitoring and habilitation.
Serial tympanometry and audiometry detect middle-ear fluid and conductive hearing loss common in cleft palate; hearing aids are options when tubes aren’t ideal. Purpose: support speech, school learning, and social development. Mechanism: timely amplification and follow-up per OME guidance. NCBI+1

5) Classroom accommodations.
Preferential seating, FM systems, and teacher awareness reduce listening effort and improve academic access for children with fluctuating hearing or visual focus issues. Purpose: equal learning opportunity. Mechanism: reduce signal-to-noise barriers. Medscape

6) Vision correction and myopia control counseling.
Full-time spectacles or contacts correct refractive error; lifestyle advice includes more outdoor time and regular breaks from near screens to help delay myopia onset/progression. Purpose: clear, stable vision. Mechanism: optical correction plus environmental measures with evidence for myopia control. College of Optometrists+1

7) Myopia control optics or strategies (as indicated).
Options like dual-focus soft contact lenses or orthokeratology may be discussed in appropriate older children when feasible and safe. Purpose: slow axial elongation. Mechanism: controlled peripheral defocus reduces myopic progression in RCTs. PMC

8) Nystagmus management strategies.
Low-vision assessment, optimal refraction, and sometimes prisms can reduce abnormal head posture and oscillopsia; surgical or other options depend on nystagmus type. Purpose: better visual comfort and function. Mechanism: optical realignment and individualized plans. AAO+1

9) Low-vision services (when vision remains limited).
Magnifiers, lighting, and skills training improve reading and daily tasks in significant retinal or nystagmus-related vision loss. Purpose: independence and school success. Mechanism: visual aids and adaptive techniques. AAO

10) Developmental and educational therapy.
Early intervention and individualized education plans (IEPs) support motor, language, and learning needs tied to hearing/vision challenges. Purpose: maximize developmental potential. Mechanism: targeted goals with therapists/educators. UC Davis Health

11) Dental/orthodontic care.
Cleft-related dental anomalies benefit from early dental preventive care and staged orthodontics aligned with palatal and alveolar repair timing. Purpose: healthy bite and teeth alignment. Mechanism: phased appliances and hygiene. UC Davis Health

12) Psychosocial support and family counseling.
Peer groups and counseling help children and parents manage visible differences and repeated procedures. Purpose: emotional resilience. Mechanism: structured psychoeducation and support networks. UC Davis Health

13) Scar care and facial therapy after lip repair.
Massage, silicone, and sun protection reduce scar thickness and color change; facial muscle exercises can help symmetry. Purpose: improved appearance and movement. Mechanism: collagen remodeling and UV avoidance. UC Davis Health

14) Otologic hygiene and middle-ear care education.
Caregivers learn signs of ear infection/effusion, tube care (if placed), and when to seek review. Purpose: prevent chronic hearing loss. Mechanism: early presentation and treatment adherence. Medscape

15) Sleep and airway evaluation (as needed).
Cleft-related craniofacial anatomy can raise airway risk; screening and positional advice, and referral if symptoms of sleep-disordered breathing occur. Purpose: safe sleep and behavior/learning benefits. Mechanism: structured screening and ENT input. NCBI

16) Nutritional guidance around surgeries.
Growth-friendly diets before/after operations support healing; avoiding hard or sharp foods after palate surgery protects the repair. Purpose: safe recovery and weight gain. Mechanism: staged texture plans. UC Davis Health

17) Sun and eye protection habits.
Consistent hats and sunglasses protect sensitive eyes and periocular scars. Purpose: comfort and long-term skin/eye health. Mechanism: UV reduction. Arizona Eye Disorders

18) Regular dental sealants/fluoride and oral hygiene training.
Children with clefts may have enamel issues and crowded teeth; preventive dentistry lowers cavities and surgical complications. Purpose: fewer dental problems. Mechanism: enamel protection and plaque control. UC Davis Health

19) Structured screen-time limits and outdoor play.
Increasing daily outdoor time and reducing prolonged near work can help delay myopia onset. Purpose: vision protection during growth. Mechanism: light exposure and distance-viewing benefits observed in trials and reviews. Nature+1

20) Care transition planning (adolescence → adult).
A written plan ensures ongoing ENT, dental/orthodontic, ophthalmic, and psychosocial care into adulthood. Purpose: continuity of health and function. Mechanism: staged referrals and records transfer. UC Davis Health

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Drug treatments

There is no disease-specific drug for this rare triad. Medications target associated problems—middle-ear disease, eye surface comfort, specific nystagmus types, or postoperative needs. Always follow your specialist’s advice.

1) Topical antibiotic-steroid ear drops (short courses).
Class: otic antibiotic ± steroid; Dose/Time: per ENT (e.g., after tube placement episodes, typically 5–7 days). Purpose: treat tube otorrhea. Mechanism: local infection control and inflammation reduction. Side effects: local irritation; overuse risks resistance. Medscape

2) Oral antibiotics for acute otitis media (when diagnosed).
Class: beta-lactams (e.g., amoxicillin) or per guideline; Dosing: weight-based, limited days. Purpose: pain relief and infection cure. Mechanism: eradicates middle-ear pathogens. Side effects: GI upset, allergy. Medscape

3) Intranasal steroids for allergic rhinitis (if comorbid).
Class: corticosteroid nasal sprays; Daily dosing. Purpose: reduce nasal inflammation that can worsen eustachian dysfunction. Mechanism: anti-inflammatory in nasal mucosa. Side effects: local irritation/epistaxis. Medscape

4) Analgesics post-surgery (acetaminophen/ibuprofen when appropriate).
Class: non-opioid analgesics; Dosing: weight-based, time-limited. Purpose: pain control after cleft/ear procedures. Mechanism: central COX inhibition (acetaminophen) and COX inhibition (NSAIDs). Side effects: liver risk with overdose (acetaminophen), GI/renal risks (NSAIDs). UC Davis Health

5) Lubricant eye drops (artificial tears).
Class: ocular lubricants; Dosing: as needed. Purpose: relieve dryness/irritation and improve comfort with nystagmus or refractive correction. Mechanism: tear-film support. Side effects: mild blur immediately after instillation. AAO

6) Prism spectacles (an optical “device,” not a drug).
Included here for completeness when prisms are prescribed instead of meds. Purpose: reduce abnormal head turn and improve sight in some nystagmus patterns. Side effects: adaptation period. AAO

7) Atropine 0.01–0.05% eye drops (myopia control; select cases).
Class: antimuscarinic; Dosing: nightly in appropriate children under specialist care. Purpose: slow myopia progression. Mechanism: retinal/biomechanical pathways not fully defined; RCT-supported benefit. Side effects: light sensitivity, near blur (dose-dependent). PMC

8) Antihistamine/mast-cell stabilizer eye drops (if allergic eye disease).
Class: topical antiallergics; Dosing: 1–2×/day in allergy seasons. Purpose: reduce itching/tearing that worsens visual comfort. Mechanism: blocks histamine and stabilizes mast cells. Side effects: transient sting. PMC

9) Short-course topical ocular steroids (only for clear indications).
Class: corticosteroid eye drops; Dosing: tapered course. Purpose: treat significant ocular surface inflammation when prescribed. Mechanism: strong anti-inflammatory effect. Side effects: pressure rise, cataract risk with prolonged use—must be supervised. AAO

10) Botulinum toxin (special nystagmus scenarios).
Class: neuromuscular blocker; Dosing: specialist-administered injections. Purpose: reduce oscillations or abnormal head posture in selected patterns. Mechanism: blocks acetylcholine at the neuromuscular junction. Side effects: transient diplopia/ptosis; effects wear off. AAO

11) Gabapentin (for some acquired/peduncular nystagmus types).
Class: GABA analogue anticonvulsant; Dosing: individualized titration. Purpose: reduce oscillation amplitude in selected nystagmus. Mechanism: central neural modulation. Side effects: dizziness, sedation. PubMed

12) Baclofen (periodic alternating nystagmus).
Class: GABA_B agonist; Dosing: titrated oral. Purpose: damp nystagmus and improve gaze stability. Mechanism: brainstem/cerebellar modulation. Side effects: drowsiness, hypotonia. PubMed

13) 4-aminopyridine / 3,4-diaminopyridine (downbeat nystagmus; specialist use).
Class: potassium-channel blockers; Dosing: specialist protocols. Purpose: improve ocular motor stability. Mechanism: enhances cerebellar Purkinje cell function. Side effects: paresthesias, seizures in overdose—specialist only. PubMed

14) Antibiotic prophylaxis (peri-operative, per surgeon).
Class: various short-course antibiotics; Dosing: single dose or brief course. Purpose: lower surgical site infection risk for cleft or ear surgery. Mechanism: peri-operative bacterial suppression. Side effects: allergy, GI upset. UC Davis Health

15) Saline nasal sprays post-op.
Class: isotonic saline; Dosing: several times daily. Purpose: gentle cleansing and comfort after nasal components of lip repair. Mechanism: moisturizes mucosa. Side effects: minimal. UC Davis Health

16) Analgesic eye drops post-procedures (if used).
Class: topical NSAIDs (limited use). Purpose: short-term pain relief after minor ocular procedures. Mechanism: COX inhibition. Side effects: surface irritation; avoid prolonged use. AAO

17) Decongestants/antihistamines (systemic; short courses when appropriate).
Class: oral antihistamines ± decongestants; Dosing: age/weight-based. Purpose: relieve nasal congestion that complicates eustachian function. Mechanism: anti-histamine and vasoconstriction. Side effects: sedation, tachycardia; avoid chronic use in children. Medscape

18) Fluoride varnish (topical dental).
Class: topical fluoride; Dosing: periodic dental visits. Purpose: caries prevention in cleft-affected dentition. Mechanism: enamel remineralization. Side effects: rare nausea if swallowed. UC Davis Health

19) Post-operative anticoagulation is not routine in typical cleft/ear surgery but is listed here to clarify it is generally not indicated in healthy children and should not be used unless a specific risk exists. Purpose/mechanism: n/a. Side effects: bleeding (hence avoided without indication). UC Davis Health

20) Antibiotic stewardship principle.
Even though antibiotics appear several times above, teams follow watchful waiting or non-antibiotic options when safe. Purpose: reduce resistance/adverse effects. Mechanism: guideline-directed thresholds for prescribing. Side effects avoided: diarrhea, allergy. Medscape

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Dietary molecular supplements

1) Periconceptional folic acid for future pregnancies (prevention context).
Dose commonly 400 μg daily before conception and in early pregnancy per public-health guidance. Some studies suggest reduced risk of orofacial clefts; other high-quality reviews find mixed or no significant effect. Families planning more children should follow local prenatal guidance. Function: 1-carbon metabolism support. Mechanism: folate-dependent DNA methylation in early embryogenesis. The Lancet+2PMC+2

2) Vitamin B12 adequacy.
Ensure diet meets recommended intake (through foods or prenatal supplements for future pregnancies) because B12 interacts with folate metabolism. Function: methylation and neural development. Mechanism: cofactor for methionine synthase. ScienceDirect

3) Vitamin D sufficiency.
General pediatric benefit for bone/immune health and postoperative healing; supplement only if deficient per clinician advice. Function: calcium regulation and immune modulation. Mechanism: VDR-mediated transcription. UC Davis Health

4) Iron (deficiency correction if present).
Treat documented anemia to support growth and recovery from surgery. Function: hemoglobin synthesis. Mechanism: replenishes iron stores. UC Davis Health

5) Omega-3 fatty acids (food-first approach).
Dietary omega-3s support general eye surface comfort and anti-inflammatory balance; consider intake via fish or fortified foods. Function: membrane fluidity and eicosanoid balance. Mechanism: DHA/EPA incorporation. AAO

6) Zinc (if low).
Zinc supports wound healing and taste/appetite. Supplement only if deficiency is identified. Function: enzyme cofactor. Mechanism: cell proliferation and immune function. UC Davis Health

7) Adequate protein.
Post-operative diets need sufficient protein for tissue repair; emphasize food sources over pills. Function: collagen and muscle synthesis. Mechanism: essential amino acids for healing. UC Davis Health

8) Hydration and fiber.
Smooth recovery after anesthesia and pain medicines; prevents constipation. Function: bowel regularity. Mechanism: stool bulk and water balance. UC Davis Health

9) Multivitamin during recovery (short term if diet is limited).
Consider a pediatric multivitamin under clinician guidance when intake is poor post-op. Function: cover micronutrient gaps. Mechanism: broad micronutrient provision. UC Davis Health

10) Avoid megadoses or unproven “bone/eye growth” supplements.
Focus on balanced nutrition and medical therapies; high-dose products can be harmful. Function/mechanism: n/a—safety warning. AAO

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Immunity-booster / regenerative / stem-cell” drugs

For this syndrome, there are no approved regenerative or stem-cell drugs that correct the underlying craniofacial patterning. The safest approach is evidence-based surgery and therapies. Any “immune-booster” claims should be viewed skeptically unless prescribed for a separate, proven deficiency or disease. Dose/mechanism details are therefore not applicable for disease modification here. NCBI

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Surgeries

1) Cheiloplasty (cleft lip repair).
Procedure: surgical closure and shaping of the upper lip, usually in early infancy. Why: restore lip seal for feeding, speech articulation, and appearance. UC Davis Health

2) Palatoplasty (cleft palate repair).
Procedure: closure of the palate and reconstruction of muscles for speech, typically in the first year. Why: improve speech, feeding, and reduce ear problems by better eustachian function. UC Davis Health

3) Tympanostomy (ear) tubes.
Procedure: tiny ventilation tubes placed through the eardrum for persistent middle-ear fluid/hearing loss in children with cleft palate. Why: improve hearing and lower infection frequency when indicated. NCBI

4) Otoplasty/microtia reconstruction (selected children).
Procedure: staged ear reshaping or reconstruction when external ear is small or malformed. Why: improve sound collection and appearance, and support self-image. NCBI

5) Strabismus or nystagmus-related eye muscle surgery (selected cases).
Procedure: extraocular muscle surgery for significant misalignment or abnormal head posture. Why: better binocular function and comfort. AAO

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Preventions

1. Prenatal care and routine supplements as locally recommended (e.g., folic acid). Evidence for cleft prevention is mixed but public-health folate has other proven benefits. PMC+1

2. Avoid smoking, alcohol, and known teratogens in pregnancy. UC Davis Health

3. Manage maternal diabetes and nutrition before conception and during pregnancy. UC Davis Health

4. Genetic counseling for families with a history of craniofacial anomalies. Orpha

5. Vaccinations and infection prevention in pregnancy as advised. UC Davis Health

6. Safe medication review with obstetric providers before/during pregnancy. UC Davis Health

7. Early newborn screening of hearing and vision to catch issues quickly. Medscape

8. Regular outdoor time for children to help reduce myopia risk. Nature

9. Limit prolonged near-screen time in childhood. College of Optometrists

10. Routine dental prevention to avoid caries around cleft-affected teeth. UC Davis Health

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When to see doctors urgently vs. routinely

Urgently: if a child with cleft palate has fever and ear pain or discharge, signs of dehydration from feeding problems, breathing difficulty, sudden eye pain/redness or vision drop, or wound problems after surgery. These issues can worsen quickly and need prompt care. Medscape

Routinely: newborn period for team intake; before the typical ages for lip and palate repair; regular audiology and ENT checks (especially if middle-ear fluid persists), ophthalmology visits for refraction/myopia and nystagmus plans, and speech-language and dental/orthodontic follow-up through childhood. NCBI+1

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What to eat & what to avoid

What to eat: soft, nutrient-dense foods that meet protein and calorie needs, especially around surgery; vitamin-rich fruits/vegetables; iron- and B-12–containing foods; omega-3-rich options like fish (as culturally suitable). These choices support growth, wound healing, and energy. UC Davis Health

What to avoid: hard, sharp, or crumbly foods soon after palate surgery; sugary drinks and sticky snacks that raise cavity risk; high-dose “miracle” supplements promising bone or eye growth. Follow your surgeon’s texture schedule and your dentist’s prevention plan. UC Davis Health

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Frequently asked questions

1) Is this syndrome the same as Goldenhar/OAVS?
No. They can look similar in some children, but OAVS includes vertebral and facial asymmetry more often. Your team will decide which label best fits your child’s findings. Rare Diseases

2) Is it genetic?
It likely has a genetic basis, but no single gene is confirmed for this exact triad yet. Testing helps rule out better-defined conditions. PubMed

3) Can folic acid prevent it?
Folic acid is recommended for many reasons; some studies suggest it may lower risk of nonsyndromic clefts, but overall results are mixed. It’s still advised for general prenatal health. PMC+1

4) Will my child hear normally?
Many children do well with timely management (tubes or hearing aids when indicated). Regular checks are essential. NCBI

5) Will my child’s speech be normal?
Most children achieve good speech with proper palate repair and therapy, though some need extra treatment for resonance or articulation. UC Davis Health

6) Can my child’s eyesight be normal?
With glasses/contacts and myopia-control strategies, many children see well. Nystagmus needs individualized plans. PMC+1

7) How many surgeries are needed?
Usually at least lip and palate repair, and sometimes ear or eye muscle surgery—timed to growth and needs. UC Davis Health

8) Are there stem-cell or “regenerative” medicines to fix the condition?
No approved regenerative drugs exist for this syndrome. Surgery and therapy remain the mainstays. NCBI

9) Will my child need braces?
Often yes, in staged orthodontics coordinated with cleft care. UC Davis Health

10) What about sports and normal activities?
Children usually participate fully with protective eyewear as needed and standard precautions after surgeries. AAO

11) Could future children be affected?
Risk is uncertain; a genetics clinic can review family history and discuss options. Orpha

12) Do screens really affect myopia risk?
More outdoor time and limiting prolonged near work are evidence-supported strategies to reduce myopia risk. Nature+1

13) What if ear discharge happens after tubes?
Short courses of topical antibiotic-steroid drops often help—see ENT for guidance. Medscape

14) Are hearing aids an option instead of tubes?
Yes, especially when surgery is not suitable or preferred. ASHA Apps

15) Where can I read more about this exact rare syndrome?
See the NIH GARD and Orphanet summaries and the original family report that first proposed the triad. GARD Information Center+2Orpha+2

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: September 28, 2025.

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