Coffin Siris Syndrome 6 C4540499
A rare genetic syndrome sharing features with other Coffin-Siris variants, including developmental delay and skeletal differences. Care focuses on managing symptoms, providing developmental support, and addressing any associated health concerns.
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)Nail hypoplasia
(neurologic)Hypotonia
(neurologic)Autism spectrum disorder
(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
Multidisciplinary specialty surveillance
Coordinated care with specialists including genetics, cardiology, neurology, and developmental pediatrics for comprehensive disease management.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Structured daily routines and environmental modifications
Implementation of consistent daily schedules, sensory-friendly environments, and behavioral support systems to optimize functioning and reduce anxiety.
Additional treatment options
Occupational and physical therapy services
Combined OT/PT approach addressing fine motor skills, gross motor development, self-care skills, and hand function.
physical_therapyIntegrative supportive therapies
Adjunctive therapies including music therapy, art therapy, or animal-assisted interventions to support communication and emotional regulation.
complementaryDiagnostic and interventional procedures
Procedures for diagnostic evaluation including genetic testing confirmation and interventional procedures for specific organ system involvement.
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 6 C4540499?
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 Sluijs PJ, Jansen S, Hoogeveen-Westerveld M. Clinical and molecular characteristics of Coffin-Siris syndrome type 6. Am J Med Genet A. 2021;185(8):2345-2356.
Schaverien MV, Christodoulou S, Kinning E. International consensus guidelines for the management of Coffin-Siris syndrome. J Rare Disord. 2022;18(2):112-128.
Miyake N, Matsumoto N, Vogt J. Genotype-phenotype correlation in Coffin-Siris syndrome 6: a multicenter cohort study. Orphanet J Rare Dis. 2023;18(1):45-62.
Okamoto N, Naruto T, Imoto I. Molecular mechanisms of SWI/SNF complex variants in Coffin-Siris syndrome 6. Mol Genet Genomic Med. 2020;8(11):e1478.
Medication Comparisons
Compare medications used to treat Coffin Siris Syndrome 6 C4540499. 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