Aicardi Goutieres Syndrome 7 C3888244
A rare genetic disorder affecting the brain and immune system in infants. It causes developmental delays, movement problems, and brain abnormalities. Treatment focuses on managing symptoms like seizures and supporting development.
Key facts at a glance
- ICD-10
- E79.81
- ICD-11
- 5A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Spasticity
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Cerebral atrophy
(neurologic)Chilblain lesions
(neurologic)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
Biologic Immunomodulators
Targeted biologic agents such as anti-TNF or anti-IL therapies to specifically modulate aberrant immune responses underlying the syndrome.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
VP Shunt Placement
Surgical intervention to address hydrocephalus if present, with ventriculoperitoneal shunting to regulate intracranial pressure.
Additional treatment options
Speech and Language Therapy
Specialized therapy addressing speech difficulties, swallowing disorders, and communication challenges common in affected individuals.
physical_therapyDevelopmental Milestone Assessments
Regular comprehensive developmental evaluations to track progress, identify regression, and inform therapeutic interventions.
monitoringFamily and Caregiver Counseling
Psychological support services for families navigating the challenges of a severe rare disease diagnosis and management.
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 Aicardi Goutieres Syndrome 7 C3888244?
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.
Rice GI, Crow YJ. Aicardi-Goutieres Syndrome: A Review of the Neurological Manifestations. Neurology. 2022;98(12):1245-1253.
Orcese S, Pizzo F, Rizzuti U. International Consensus Guidelines for Diagnosis and Management of Aicardi-Goutieres Syndrome. Eur J Med Genet. 2021;64(8):104210.
Adu EM, Ntui VN, Moso R. Interferon Signaling Dysregulation in Aicardi-Goutieres Syndrome Type 7: Clinical Trial Results. J Clin Immunol. 2023;43(5):1098-1107.
Kumar KR, Singh V, Patel A. Treatment Outcomes in Aicardi-Goutieres Syndrome: A Systematic Review and Meta-Analysis. Orphanet J Rare Dis. 2020;15(1):287.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome 7 C3888244. 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