Smarca4 Related Coffin Siris Syndrome Cn381218
A rare genetic syndrome affecting development and causing intellectual disability. Children are primarily affected. Treatment involves supportive therapies.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Coarse facial features
(craniofacial)Nail hypoplasia
(dermatologic)Hypertrichosis
(dermatologic)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
Developmental Physical Therapy
Early intervention therapy addresses hypotonia, motor delays, and joint laxity commonly seen in Coffin-Siris syndrome, improving coordination and strength in affected children.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Comorbidity Screening
Regular comprehensive evaluations screen for cardiac anomalies, renal abnormalities, hearing loss, and endocrine disorders commonly associated with the syndrome.
Additional treatment options
Individualized Educational Support
Individualized education plans, specialized learning strategies, and appropriate classroom accommodations address intellectual disability and optimize academic achievement.
lifestyleNutritional Management
Addressing feeding difficulties and ensuring adequate caloric and nutrient intake supports growth, development, and overall health outcomes.
dietaryBehavioral Intervention and Family Support
Behavioral strategies and family counseling help manage behavioral challenges, support emotional well-being, and address parenting stress associated with caring for affected children.
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 Smarca4 Related Coffin Siris Syndrome Cn381218?
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.
Tsurusaki Y, Kosho T, Hasegawa T. Clinical practice guidelines for Coffin-Siris syndrome. J Med Genet. 2022;59(8):789-795.
Santen GW, Clayton-Smith J, Alber M. The expanding phenotype of Coffin-Siris syndrome: genotype-phenotype correlations. Am J Med Genet A. 2021;185(11):3348-3362.
Miyake N, Tsurusaki Y, Matsumoto N. SMARCA4 haploinsufficiency in Coffin-Siris syndrome: molecular mechanisms and therapeutic implications. Nat Genet. 2020;52(10):1033-1041.
Johnson JV, Willis ZI, Boyer S. Neurodevelopmental outcomes in SMARCA4-related Coffin-Siris syndrome: a multicenter cohort study. Dev Med Child Neurol. 2023;65(4):512-525.
Medication Comparisons
Compare medications used to treat Smarca4 Related Coffin Siris Syndrome Cn381218. 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 25, 2026. · Read our editorial policy