Irf6 Related Neural Tube Defect Cn381360
A birth defect affecting brain and spinal cord development, linked to IRF6 gene variations. Requires surgical and supportive care.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neural tube defect (spina bifida)
(neurologic)Hydrocephalus
(neurologic)Neurogenic bladder
(neurologic)Chiari malformation
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Surgical Neural Tube Defect Repair
Surgical intervention to repair the neural tube defect, typically performed by neurosurgeons with experience in such malformations. Timing depends on defect severity and associated complications like hydrocephalus.
Folic Acid Supplementation
High-dose folic acid supplementation for family members to prevent recurrence in future pregnancies. While not reversing existing defects, it demonstrates the importance of periconceptional folate for neural tube development.
Additional treatment options
Multidisciplinary Monitoring Program
Long-term neurological monitoring for developmental progress, seizure activity, and motor function. Regular neuroimaging to assess for hydrocephalus progression or other complications requiring intervention.
monitoringEarly Intervention Physical Therapy
Specialized physical therapy to address motor delays, improve muscle tone management, and maximize functional mobility. Focus on age-appropriate developmental milestones and preventing contractures.
physical_therapyNeurodevelopmental and Family Support
Psychological support and counseling for families and affected individuals to address the chronic nature of neural tube defects and associated disabilities. Includes educational support and social services coordination.
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 Irf6 Related Neural Tube Defect Cn381360?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Irf6 Related Neural Tube Defect Cn381360. 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 27, 2026. · Read our editorial policy