Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome (CFC syndrome) is a RASopathy caused by a pathogenic variant in BRAF, MAP2K1, MAP2K2, or, less often, KRAS. It can affect the heart, feeding and growth, skin and hair, vision, hearing, movement, learning, communication, and seizure risk. The combination and severity vary widely, including among people with variants in the same gene.1

Urgent safety

Use emergency services for fainting with poor recovery, blue or gray color, severe breathing difficulty, a prolonged or repeated seizure meeting the person's emergency plan, or a serious fall or injury. New chest pain, palpitations, fainting, reduced exercise tolerance, or breathing change needs prompt medical review because structural heart disease and rhythm disturbance can occur.1

Seek urgent assessment for choking, inability to clear secretions, marked dehydration, or persistent vomiting with reduced alertness or urine output. A sudden change in function or behavior should be assessed for pain, illness, seizures, cardiac problems, and medication effects rather than assigned to CFC syndrome.

Clinical pattern and diagnosis

Possible features include:

• pulmonic stenosis, hypertrophic cardiomyopathy, septal or valve differences, or rhythm disturbance;
• feeding difficulty, reflux, vomiting, oral aversion, poor growth, and swallowing or aspiration concerns;
• hypotonia, delayed motor development, gait or coordination difficulty, and orthopedic differences;
• seizures and developmental, learning, speech, or language differences of variable degree;
• dry or thickened skin, eczema, sparse or curly hair, and nail changes;
• strabismus, nystagmus, optic-nerve or refractive differences, and hearing loss.

The phenotype overlaps with Noonan and Costello syndromes and other RASopathies. Diagnosis is established by compatible findings and a pathogenic or likely pathogenic variant in a CFC-associated gene. A variant of uncertain significance is not diagnostic. Clinical examination alone may not reliably separate overlapping RASopathies.1

Most cases result from a new autosomal-dominant variant. Recurrence risk depends on the molecular result and possible parental mosaicism, so genetic counseling and appropriate parental testing are important.1

Treatment and surveillance

There is no single treatment for CFC syndrome. Care is feature-specific and may involve genetics, cardiology, neurology, gastroenterology and nutrition, dermatology, ophthalmology, audiology, endocrinology, dentistry, orthopedics, rehabilitation, and developmental services.1

Cardiac surveillance remains important even when an initial evaluation is normal, with timing set by age, findings, and cardiology guidance. Seizure treatment, feeding support, skin care, growth evaluation, and therapy plans should be individualized through direct assessment. Do not prescribe diets, exercises, mobility devices, sensory programs, or behavioral treatment from the diagnosis alone.

Feeding and communication

Feeding and swallowing assessment should address coughing, choking, respiratory symptoms, prolonged or stressful meals, vomiting or reflux, weight and hydration, food refusal, positioning, and sensory or motor contributors. Texture, pacing, posture, equipment, and tube-feeding decisions require direct assessment and shared planning.1

Communication profiles range from functional speech to speech that is limited or unreliable. Hearing, vision, motor control, seizures, sleep, pain, medication effects, and learning profile can all affect performance. Do not equate speech, test scores, or facial appearance with understanding, preferences, or capacity to participate.

Use speech, gesture, sign, objects, pictures, writing, and speech-generating AAC in whatever combination works for the person. Trial direct touch, adapted pointers, switches, partner-assisted scanning, or eye gaze from actual motor and visual performance. Provide enough processing time, teach communication partners, include personally meaningful and urgent vocabulary, and keep a low-tech backup. Reassess access as health, vision, movement, and environments change.3 For evaluation, trials, funding, and implementation, use the AAC device acquisition guide.

Coding

FY2026 ICD-10-CM does not provide a CFC-specific descriptor. Q87.89 is the broad descriptor “Other specified congenital malformation syndromes, not elsewhere classified,” not a diagnosis-specific definition. Coding should be confirmed from the documented molecular and clinical diagnoses, associated conditions, encounter purpose, and local rules.4

Sources

1. Rauen. Cardiofaciocutaneous Syndrome, GeneReviews — current molecular diagnosis, variable clinical features, treatment, surveillance, and genetic counseling (revised 2026).
2. Pierpont et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines — multidisciplinary management guidance.
3. American Speech-Language-Hearing Association: Augmentative and Alternative Communication — individualized, multimodal AAC assessment without cognitive prerequisites.
4. Centers for Medicare & Medicaid Services: FY2026 ICD-10-CM definitions — Q87.89 descriptor.

Review boundary

This page cannot diagnose CFC syndrome, interpret a genetic result, or remotely assess cardiac, seizure, swallowing, nutrition, or developmental risk. Emergencies require immediate local assessment. Surveillance, medication, diet, equipment, mobility, and communication decisions require direct review by the relevant clinicians with the person and family.