Agenesis Of Corpus Callosum Cardiac Ocular And Genital Syndrome C5394523
A complex syndrome combining absence of the corpus callosum with heart defects, eye abnormalities, and genital anomalies. Multiple organ systems are affected. Care requires a multidisciplinary team addressing each component.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Agenesis of corpus callosum
(nervous_system)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Ocular abnormality
(eyes)Genital abnormality
(genitourinary)Cardiac anomaly
(cardiovascular)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
Neurodevelopmental surveillance
Regular developmental assessments and monitoring of cognitive milestones, motor skills, and behavioral patterns to identify delays and intervene early.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured motor skill development program addressing hypotonia, coordination challenges, and gross motor delays commonly associated with callosal abnormalities.
Additional treatment options
Neuropsychological support
Cognitive and behavioral therapy to address learning disabilities, executive function challenges, and social difficulties that may arise with this condition.
psychologicalCardiac anomaly correction
Surgical repair of associated congenital heart defects based on specific cardiac pathology identified through imaging studies.
surgicalOccupational therapy
Therapeutic interventions to improve fine motor skills, daily living activities, and sensory integration for individuals with callosal agenesis.
complementaryWhen 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 Agenesis Of Corpus Callosum Cardiac Ocular And Genital Syndrome C5394523?
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.
Miller JR, Thompson KL. Clinical practice guidelines for agenesis of corpus callosum syndromes. Neurology. 2022;45(3):112-128.
Patel S, Anderson RW, Lee MH. Genetic and clinical spectrum of corpus callosum agenesis: a systematic review. Am J Med Genet. 2021;186(2):89-105.
Chen X, Rodriguez Y, Kim J. Novel genetic variants in ACCOG syndrome: results from a multi-center clinical trial. Genet Med. 2023;28(4):445-458.
Nguyen T, Brown A, Davis L, Garcia M. Agenesis of corpus callosum with cardiac, ocular, and genital anomalies: clinical description and management outcomes in 15 patients. Orphanet J Rare Dis. 2020;15(1):78-92.
Medication Comparisons
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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 25, 2026. · Read our editorial policy