Cardiofaciocutaneous Syndrome 1 Cn029449
A genetic syndrome causing heart defects, distinctive facial features, skin problems, and intellectual disability. Requires lifelong care from multiple specialists to manage symptoms.
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.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Nystagmus
(neurological)Gastroesophageal reflux
(gastrointestinal)Pulmonary valve stenosis
(cardiovascular)Sparse scalp hair
(integumentary)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
Exercise prescription and weight management
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
Physical 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.
psychologicalSurgical intervention for cardiac defects
Corrective surgery for severe congenital heart defects including pulmonary stenosis or septal defects when medical management is insufficient.
surgicalWhen 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 1 Cn029449?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy