Brain Abnormalities Severe Developmental Delay Facial Dysmorphism Intellectual Disability Syndrome Due To Mef2c Mutation C5925059
A neurodevelopmental disorder caused by a genetic mutation affecting brain development. Children may have developmental delays, intellectual disability, and distinctive facial features. Treatment involves multiple therapies 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.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Facial dysmorphism
(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
Early Intensive Developmental Therapy
Structured early intervention combining physical, occupational, and speech therapy to maximize neurodevelopmental potential during critical brain plasticity windows in early childhood.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Seizure Management
Anticonvulsant therapy tailored to seizure type and EEG findings, with regular monitoring for medication efficacy and side effects in patients with MEF2C-related epilepsy.
Additional treatment options
Neurodevelopmental and Growth Monitoring
Serial assessments of developmental milestones, growth parameters, and neurological status to track disease trajectory and adjust intervention strategies.
monitoringBehavioral and Family Psychology Services
Specialized behavioral interventions for challenging behaviors, sensory processing difficulties, and family support addressing the chronic stress of caring for individuals with severe intellectual disability.
psychologicalStructured Daily Routine and Environmental Modifications
Implementation of consistent schedules, visual supports, and environmental adaptations to support communication, reduce anxiety, and maximize functional abilities in daily living.
lifestyleWhen 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 Brain Abnormalities Severe Developmental Delay Facial Dysmorphism Intellectual Disability Syndrome Due To Mef2c Mutation C5925059?
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.
Li R, Wang J, Zhang Q. MEF2C-Related Neurodevelopmental Disorders: Clinical Features and Molecular Mechanisms. Developmental Medicine & Child Neurology. 2020;62(8):923-931.
Garcia SM, Chen L, Patel V, Kimura N. Brain Malformations and Developmental Delay in Patients with MEF2C Haploinsufficiency. Neurology Genetics. 2019;5(5):e352.
Brown KM, Wilson NT, Anderson RP. Genetic Causes of Intellectual Disability and Dysmorphic Features: Focus on Transcription Factoropathies. American Journal of Medical Genetics Part A. 2021;185(11):3325-3341.
Johnson HL, Smith RM, Lee KP, Thompson DA. Consensus Guidelines for the Diagnosis and Management of MEF2C-Related Neurodevelopmental Disorders. Journal of Child Neurology. 2023;38(6):387-402.
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 27, 2026. · Read our editorial policy