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What is cardiofaciocutaneous (CFC) syndrome?

Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition that affects a child’s development and many different areas of the body. Children who have CFC syndrome often have recognizable facial features, congenital heart defects (CHDs), and dermatologic issues (affecting the skin, hair, and nails), and they experience developmental delays to a variable degree.

CFC syndrome is sometimes described as a RASopathy, a term used to describe a group of conditions caused by genetic changes in the same cellular pathway (Ras/MAPK pathway). The conditions have overlapping but distinct features. The RASopathies include CFC, Noonan syndrome, Noonan syndrome with multiple lentigines (NSML), and Costello syndrome.

The specialists at Boston Children’s Center for Cardiovascular Genetics have extensive expertise diagnosing and managing the care of children who have CFC syndrome and other rare genetic conditions.

Symptoms & Causes

What are the symptoms of CFC syndrome?

The symptoms of CFC syndrome are variable. This means that a child may not experience every potential complication, and a given problem can range from mild to severe. Possible features include:

  • Distinct facial features such as a triangular face shape; widely spaced and downward-slanting eyes; droopy upper eyelids; ears that are low set on the head and rotated slightly back; small chin; and short nose
  • Congenital heart defects such as:
  • Hypertrophic cardiomyopathy, a thickening of the muscle of the pumping chambers of the heart
  • Delays in development (such as speaking or walking at a later age than one’s peers) with a range of severity from mild to more severe
  • Learning issues requiring extra support in school
  • Seizures
  • Dermatologic differences such as dry, rough skin; sparse and curly hair; slow growing hair or nails, or both
  • Vision problems such as strabismus (one or both eyes are not properly aligned and may appear to be looking outward or inward) and involuntary eye movement (nystagmus)
  • Hypotonia (low muscle tone)
  • Poor growth in infancy
  • Feeding difficulties and gastrointestinal issues
  • Short stature
  • Recurrent ear infections
  • Issues with bleeding or bruising

What causes CFC syndrome?

CFC syndrome is caused by a genetic change (also known as a mutation or variant) in an individual’s DNA, or genetic material. The changes responsible for CFC syndrome occur in regions of DNA called genes. While DNA contains thousands of genes, changes in only a small handful of them are associated with the condition. Pathogenic variants in BRAF, KRAS, MAP2K1, and MAP2K2 cause CFC.

Most children who have CFC syndrome experienced a random change in their DNA, meaning they are the first person in their family to have the syndrome and did not inherit the genetic change from a parent.

Diagnosis & Treatments

How is CFC syndrome diagnosed?

CFC syndrome may be suspected based on the presence of several features or symptoms in your child. A diagnosis can be made by a clinical geneticist who is familiar with the condition and through genetic testing. Genetic testing is typically performed through a simple blood or cheek swab test. If your family’s health care provider recommends genetic testing, a genetic counselor can explain the process of testing, determine the most appropriate test, and review the advantages and limitations of testing.

At the Center for Cardiovascular Genetics, your family can meet with specialists who have experience diagnosing and working with children who have CFC syndrome. Our team provides comprehensive education about the condition and the genetic testing process.

What are the treatment options for CFC syndrome?

There is no cure for CFC syndrome, but individual symptoms can be addressed by different providers, including cardiologists, cardiac surgeons, ophthalmologists, dermatologists, endocrinologists, neurologists, gastroenterologists, and developmental specialists. A child with a new diagnosis may have several evaluations with these specialists to evaluate for or address the possible and symptoms in CFC syndrome.

How we care for CFC syndrome

Children with CFC syndrome are each unique in their own way, but many will need evaluations with a variety of different specialists. Our team makes referrals to appropriate programs and specialists based on your child’s specific needs. Many different programs and departments throughout Boston Children’s have specialists who have expertise in working with children with RASopathies such as CFC syndrome.

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