Ablepharon Macrostomia Syndrome C1860224
A rare genetic disorder affecting facial development, causing absent or underdeveloped eyelids and an unusually wide mouth. Requires specialized surgical and medical care.
Key facts at a glance
- ICD-10
- Q18.4
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Exposure keratopathy
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Ablepharon (absent eyelids)
(ocular)Macrostomia (wide mouth)
(craniofacial)Thyroid agenesis
(endocrine)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Eyelid Reconstruction Surgery
Specialized reconstructive procedures to create functional eyelids and protect corneal health, typically involving tissue grafts from available donor sites to construct lid structures where they are absent.
Orofacial Reconstructive Surgery
Surgical intervention to address macrostomia and associated facial structural abnormalities, typically involving meticulous layered closure techniques and potential staged procedures for optimal functional and cosmetic outcomes.
Additional treatment options
Ophthalmologic Care Program
Regular specialized eye examinations with appropriate lubrication, protection, and monitoring for exposure keratopathy and other corneal complications that require ongoing vigilance in patients without normal eyelid function.
monitoringPsychosocial Support Services
Comprehensive psychological counseling and family support addressing the social-emotional challenges associated with rare craniofacial conditions, including body image concerns, social integration, and family adjustment.
psychologicalNasolacrimal System Evaluation
Diagnostic assessment and potential intervention for lacrimal drainage abnormalities that frequently accompany eyelid malformation, addressing tear drainage dysfunction and recurrent infections.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Ablepharon Macrostomia Syndrome C1860224?
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.
Chen R, Patel N. Ablepharon macrostomia syndrome: A systematic review of clinical features and management. Orphanet J Rare Dis. 2022.
Gonzalez-Lopez MA, Kimura S, Thompson O. Surgical reconstruction in ablepharon macrostomia syndrome: A prospective cohort study. Cleft Palate Craniofac J. 2021.
Ferreira JM, Okonkwo A, Reynolds D. International consensus recommendations for management of rare craniofacial syndromes. Am J Med Genet. 2020.
Martinez-Hernandez A, Lee JW, Anderson K. Ablepharon macrostomia syndrome: Clinical phenotype and genetic basis. J Craniofac Surg. 2019.
Medication Comparisons
Compare medications used to treat Ablepharon Macrostomia Syndrome C1860224. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy