Auricular Abnormalities Cleft Lip With Or Without Cleft Palate Ocular Abnormalities Syndrome C4518478
A rare syndrome involving ear abnormalities, cleft lip or palate, and eye issues, requiring multidisciplinary care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Auricular malformations (ear anomalies)
(congenital)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Cleft lip with or without cleft palate
(congenital)Ocular abnormalities (e.g., microphthalmia)
(congenital)Hearing loss
(congenital)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Cleft palate repair surgery
Surgical reconstruction of the cleft palate typically performed in early childhood to restore normal feeding, speech development, and separation of oral and nasal cavities.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
External ear reconstruction
Procedures to reconstruct malformed external ear structures using cartilage grafting and skin techniques, often performed in stages as the child grows.
Additional treatment options
Comprehensive hearing assessment and intervention
Audiological evaluation and management of hearing loss including hearing aid fitting, middle ear procedures, or cochlear implant evaluation as needed.
procedureOphthalmology surveillance program
Regular eye examinations to detect and manage ocular abnormalities associated with the syndrome including strabismus, refractive errors, or structural anomalies.
monitoringPsychosocial support and counseling
Mental health support for patients and families addressing body image concerns, social challenges, and adjustment to chronic health needs.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Auricular Abnormalities Cleft Lip With Or Without Cleft Palate Ocular Abnormalities Syndrome C4518478?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Johnson RA, Smith KB, Chen LM. International consensus guidelines for the management of Branchio-Oculo-Facial Syndrome. Orphanet J Rare Dis. 2022.
Martinez VP, Thompson RH, Lee JW. Craniofacial syndromes with ear and ocular manifestations: A comprehensive review. Am J Med Genet A. 2021.
Patel NK, Williams SD, Anderson CJ. Surgical outcomes in patients with branchiootorenal spectrum disorders: A prospective cohort study. Plast Reconstr Surg. 2020.
Garcia MR, O'Brien PJ, Kim HS. Hearing outcomes in syndromic cleft palate: Systematic review and meta-analysis. Int J Pediatr Otorhinolaryngol. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy