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Cardiofaciocutaneous Syndrome 1 Cn029449

Published: July 22, 2026Updated: August 25, 2026

A genetic syndrome causing heart defects, distinctive facial features, skin problems, and intellectual disability. Requires lifelong care from multiple specialists to manage symptoms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

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

1

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

1

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Regular cardiac monitoring

Comprehensive cardiac evaluation including echocardiograms and electrocardiograms to monitor for structural heart defects and arrhythmias common in RASopathies.

monitoring
3

Dermatological management

Comprehensive skincare regimen including moisturizers, topical corticosteroids, and keratolytic agents for managing the characteristic skin findings.

medication

Additional treatment options

Physical and occupational therapy

Multidisciplinary therapy addressing motor delays, feeding difficulties, and sensory integration issues commonly seen in CFC syndrome.

physical_therapy

Neurodevelopmental and behavioral support

Comprehensive evaluation and management of intellectual disability, attention deficits, and behavioral challenges associated with the syndrome.

psychological

Surgical intervention for cardiac defects

Corrective surgery for severe congenital heart defects including pulmonary stenosis or septal defects when medical management is insufficient.

surgical

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Cardiofaciocutaneous Syndrome 1 Cn029449?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Medication Comparisons

Compare medications used to treat Cardiofaciocutaneous Syndrome 1 Cn029449. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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