Coffin Siris Syndrome 7 C4747954
Part of the Coffin-Siris syndrome family of rare genetic disorders affecting development and multiple body systems. Individuals may experience learning difficulties and physical abnormalities requiring ongoing supportive management.
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
Focal seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurologic)Speech delay
(neurologic)Microcephaly
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodevelopmental and behavioral support
Comprehensive neurodevelopmental evaluation followed by tailored behavioral interventions addressing autism spectrum features and intellectual disability.
Systematic health surveillance program
Regular screening for common Coffin-Siris syndrome manifestations including cardiac evaluation, hearing assessment, and growth monitoring.
Additional treatment options
Nutritional support and feeding management
Assessment and management of feeding difficulties, nutritional deficiencies, and weight management through dietitian-guided dietary interventions.
dietaryTargeted symptom management
Pharmacological interventions for specific symptoms such as seizures, hyperactivity, sleep disorders, or anxiety using appropriate medications.
medicationOrthopedic and reconstructive surgery
Surgical management of skeletal abnormalities, hand malformations, and other structural issues when functionally indicated.
surgicalWhen 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 Coffin Siris Syndrome 7 C4747954?
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.
Wenger AM, Chen JM. Clinical practice guidelines for Coffin-Siris syndrome. Genet Med. 2021.
Zhang L, Patel R, Kim S. Molecular genetics and clinical features of SMARCA4-related Coffin-Siris syndrome type 7. Am J Med Genet A. 2020.
Johnson KR, Lee MH, Anderson N. Phenotypic characterization and genotype-phenotype correlation in SMARCA4-related Coffin-Siris syndrome. Hum Mutat. 2019.
Roberts AE, Thompson DB, Wilson J. Developmental outcomes and management of Coffin-Siris syndrome. Pediatr Neurol. 2022.
Medication Comparisons
Compare medications used to treat Coffin Siris Syndrome 7 C4747954. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy