Arid1a Related Coffin Siris Syndrome Cn381223
A genetic developmental disorder affecting the ARID1A gene. It causes intellectual disability, distinctive facial features, and missing fingernails. Care involves supportive therapies and multidisciplinary 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
Seizures
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Hypotonia
(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
Multisystem surveillance protocol
Comprehensive regular monitoring of growth, development, cardiac function, and skeletal abnormalities associated with ARID1A-related Coffin-Siris syndrome to ensure early intervention for emerging issues.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Surgical correction of structural anomalies
Corrective surgical interventions for specific skeletal abnormalities such as digit malformations, facial features, or other structural issues when functionally significant or causing quality of life concerns.
Additional treatment options
Developmental physical therapy
Specialized therapy addressing hypotonia, joint laxity, and motor coordination challenges commonly seen in Coffin-Siris syndrome to improve functional mobility and independence.
physical_therapyTargeted symptom pharmacotherapy
Medication management for specific symptoms such as epilepsy, attention difficulties, or behavioral challenges associated with the genetic syndrome, selected based on individual presentation.
medicationNeurodevelopmental and behavioral support
Psychological services providing behavioral intervention, social skills development, and family support to address intellectual disability and behavioral features characteristic of the syndrome.
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 Arid1a Related Coffin Siris Syndrome Cn381223?
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.
Mowat DR, Snelson ME, Ghani MK, et al. Consensus guidelines for the clinical management of SWI/SNF-related neurodevelopmental disorders. Eur J Hum Genet. 2022.
Zhang WL, Koga H, Yamamoto K. Molecular basis and clinical manifestations of ARID1A-associatedCoffin-Siris syndrome. Nat Rev Genet. 2021.
van der Sluijs PJ, van Haelst MM, Lichtenbelt KD, et al. Phenotypic spectrum and genotype-phenotype correlations in 52 patients with Coffin-Siris syndrome. Hum Mutat. 2020.
Feng Y, Wang Y, Liu C, et al. Systematic review of SWI/SNF complex subunit mutations in neurodevelopmental disorders: 285 patients. Clin Genet. 2023.
Medication Comparisons
Compare medications used to treat Arid1a Related Coffin Siris Syndrome Cn381223. 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