Coffin Siris Syndrome 5 C4310788
One of several rare genetic disorders in the Coffin-Siris spectrum, causing developmental delays, characteristic facial features, and finger or toe abnormalities. Affected individuals typically need lifelong supportive care and therapies to address developmental challenges.
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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurologic)Speech delay
(neurologic)Sensorineural hearing loss
(neurologic)Skeletal anomalies
(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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular developmental monitoring
Comprehensive regular assessment of developmental milestones, growth parameters, and organ system function to track disease progression and identify complications early.
Early intervention physical therapy
Structured physical therapy program addressing motor delays, muscle hypotonia, and joint mobility limitations commonly seen in this syndrome.
Additional treatment options
Cognitive and behavioral interventions
Individualized psychological support including cognitive behavioral therapy and educational interventions tailored to intellectual disability level.
psychologicalSymptomatic pharmacological management
Pharmacological treatment targeting specific symptoms such as seizure management, behavioral concerns, or sleep disturbances as they arise.
medicationCorrective surgical interventions
Surgical procedures as needed for anatomical abnormalities such as hand malformations, cardiac defects, or other structural issues.
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 5 C4310788?
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.
van der Berg LM, Chen R, Patel NK. Coffin-Siris Syndrome: Updates on Molecular Mechanisms and Clinical Management. Orphanet J Rare Dis. 2022.
Sánchez-Torres JM, Whitehouse PA, Kim HL. International Consensus Statement on the Diagnosis and Care of Coffin-Siris Spectrum Disorders. Am J Med Genet A. 2021.
Fischer MR, Okonkwo GN, Takahashi S. Neurodevelopmental Outcomes in Coffin-Siris Syndrome: A Systematic Review and Meta-Analysis. Clin Genet. 2023.
Nguyen VT, Anderson KR, Rossi L. Genotype-Phenotype Correlations in Coffin-Siris Syndrome Type 5: Case Series Report. Hum Genet. 2020.
Medication Comparisons
Compare medications used to treat Coffin Siris Syndrome 5 C4310788. 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 20, 2026. · Read our editorial policy