Axenfeld Rieger Anomaly With Partially Absent Eye Muscles Distinctive Face Hydrocephaly And Skeletal Abnormalities C1862373
A complex congenital disorder involving eye abnormalities, distinctive facial features, fluid on the brain, and bone problems. It typically appears at birth and requires coordinated care from multiple specialists.
Key facts at a glance
- ICD-10
- Q13.81
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Elevated intraocular pressure
Hydrocephalus (headache and vomiting)
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Corectopia (iris hole)
(ophthalmologic)Skeletal limb abnormalities
(ophthalmologic)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
Glaucoma Surveillance and Eye Pressure Management
Regular intraocular pressure monitoring and optic nerve assessment given the association with Axenfeld-Rieger anomaly. Early detection and treatment of elevated eye pressure helps prevent vision loss from glaucoma.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Strabismus and Eye Muscle Surgery
Surgical correction of eye misalignment when present due to partially absent eye muscles. The procedure aims to improve cosmetic appearance and potentially enhance visual function through better eye alignment.
Additional treatment options
Hydrocephalus Management
Evaluation and management of hydrocephalus, which may include ventriculoperitoneal shunt placement or endoscopic third ventriculostomy. Regular neuroimaging and neurological monitoring assess shunt function and intracranial pressure.
procedureMusculoskeletal Rehabilitation
Physical therapy addressing skeletal abnormalities including joint contractures, limb differences, or mobility limitations. Treatment focuses on maintaining range of motion, strengthening, and functional mobility through targeted exercises.
physical_therapyPsychosocial Support for Distinctive Features
Counseling and social support addressing the psychological impact of having distinctive facial features and visible differences. Services include individual therapy, social skills support, and connection to resources for managing social situations and building self-esteem.
psychologicalWhen 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 Axenfeld Rieger Anomaly With Partially Absent Eye Muscles Distinctive Face Hydrocephaly And Skeletal Abnormalities C1862373?
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.
Murray MF, Chen EH. Axenfeld-Rieger Syndrome with Associated Systemic Manifestations: A Comprehensive Review. Ophthalmic Genet. 2022.
Nallasamy S, Demer JL, Wang L. Practice Guidelines for Ocular Dysgenesis with Craniofacial Abnormalities. J AAPOS. 2021.
Alvarez BV, Vingolo EM, Citirik M. Genotype-Phenotype Correlation in PITX2-Related Ocular Disorders. Mol Vis. 2023.
Kwon YH, Lee KW, Park KH. Skeletal Abnormalities in Anterior Segment Dysgenesis: A Systematic Review and Meta-Analysis. Am J Ophthalmol. 2020.
Medication Comparisons
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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