Cardiofaciocutaneous Syndrome 2 C3809005
A rare genetic disorder affecting heart structure, facial features, and skin development. Individuals require lifelong care from multiple specialists including cardiology and dermatology.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizure
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Feeding difficulties
(gastrointestinal)Hyperkeratotic skin lesions
(dermatological)Hypertrophic cardiomyopathy
(cardiovascular)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Regular cardiac monitoring
Comprehensive cardiac evaluation including echocardiograms and electrocardiograms to monitor for structural heart defects and arrhythmias common in RASopathies.
Dermatological management
Comprehensive skincare regimen including moisturizers, topical corticosteroids, and keratolytic agents for managing the characteristic skin findings.
Additional treatment options
Nutritional support and growth monitoring
Caloric supplementation and feeding support for failure to thrive, with regular growth parameter monitoring and adjustment of nutritional intake.
dietaryPhysical and occupational therapy
Multidisciplinary therapy addressing motor delays, feeding difficulties, and sensory integration issues commonly seen in CFC syndrome.
physical_therapyNeurodevelopmental and behavioral support
Comprehensive evaluation and management of intellectual disability, attention deficits, and behavioral challenges associated with the syndrome.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Cardiofaciocutaneous Syndrome 2 C3809005?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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 25, 2026. · Read our editorial policy