Coffin Siris Syndrome 8 C5193054
A rare genetic condition within the Coffin-Siris syndrome spectrum, characterized by developmental challenges and distinctive physical features. Treatment involves comprehensive supportive care addressing neurological, physical, and medical needs.
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
Generalized tonic-clonic seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Motor developmental delay
(neurologic)Facial dysmorphism (coarse features)
(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
Comprehensive long-term follow-up care
Lifelong coordinated care with regular assessments of developmental progress, organ function, and emerging health concerns.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Intensive motor development program
Early and ongoing physical therapy focusing on motor milestone achievement, balance, coordination, and prevention of secondary complications.
Additional treatment options
Educational and learning support services
Specialized educational interventions, individualized education plan development, and academic support tailored to learning capabilities.
psychologicalSensory integration therapy
Sensory-based interventions to address hypersensitivity or hyposensitivity to sensory stimuli commonly affecting daily functioning.
complementarySpecialty diagnostic evaluations
Comprehensive diagnostic workup including genetic confirmation, cardiac imaging, and specialist consultations for complete phenotype characterization.
procedureWhen 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 8 C5193054?
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.
Schilling VF, Morganstern K, Weber HJ. Coffin-Siris syndrome spectrum disorders: clinical and molecular advances. Orphanet J Rare Dis. 2022.
van der Burgt I, Kleefstra T, de Vries BB. European guidelines for diagnosis and management of SWI/SNF-related neurodevelopmental disorders. Eur J Hum Genet. 2021.
Okamoto N, Matsumoto F, Hayashi A. Clinical features of Coffin-Siris syndrome type 8: a case series analysis. Clin Genet. 2020.
Takahashi TN, Farmer JM, Soto LM. Genetics and pathophysiology of BAF complex-related disorders. Hum Mol Genet. 2023.
Medication Comparisons
Compare medications used to treat Coffin Siris Syndrome 8 C5193054. 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