Cardiofaciocutaneous Syndrome

Heart Issues 

The most common heart defect seen in those with CFC syndrome is pulmonary stenosis. This is a narrowing in the valve in the blood vessel that carries blood from the heart to the lungs. Other types of  heart defects present at birth include:

• Atrial septal defects
• Ventricular septal defects
• Cardiomyopathy
• Heart valve abnormalities

Other Issues

Skin

Many with CFC syndrome have skin issues, including dry skin and rough patches of skin (hyperkeratosis). Some may also have brown spots, called café-au-lait spots, or red birthmarks, called hemangiomas.

Physical Features

People with CFC syndrome have distinct facial features, such as a long face, full lips and low set ears, which can change over time.  Although those with CFC syndrome share many facial features, they also resemble their own family members.

People with CFC syndrome often have fine, curly hair. They can also have curvature of the spine (scoliosis), differences in the shape of their chest, and flat feet.

Learning and Development

Delay in reaching early developmental milestones is common for those with CFC syndrome. Infants often have trouble feeding and may have low muscle tone (hypotonia).  Almost everyone with CFC syndrome will have some range of intellectual disabilities, ranging from mild to severe.

Other Features

People with CFC syndrome can have eye problems such as crossed eyes (strabismus) and involuntary eye movement (nystagmus).

CFC is diagnosed after evaluation by a doctor who is familiar with this condition.  This evaluation should include:

• Detailed family history
• Medical history
• Physical examination

Genetic testing is also useful in making a diagnosis of CFC syndrome. The majority of patients with CFC syndrome have a change (mutation) in one of four genes.

Typically every person has two copies of each gene in their genetic makeup. One copy of the gene is inherited from their father and the other copy is inherited from their mother. With CFC syndrome, a person has a change in one copy of this gene.  Males and females are equally affected. Typically, the mutation is a new change that happens and there is no family history of the condition.

Most people with CFC syndrome do not go on to have children. If someone with CFC syndrome were to have children, they would have a 50 percent, or a one in two chance, of passing the condition to each of their children.

Treatment

There is no cure for CFC syndrome, but there are several treatments and therapies available. Each treatment plan is tailored to the patient, based on their medical issues.

• For those with heart features, treatment is similar to people who have the same heart defect but do not have CFC syndrome. Individuals with CFC syndrome who do not have heart issues are evaluated every couple of years since heart issues can develop later in life.
• For those with delayed development, early treatments may include physical, occupational, and/or speech therapy.
• Infants with severe feeding issues may need surgery. 

Management

Children should see their doctor regularly so they can:

• Check their growth and development. Children with delayed growth may need growth hormone therapy.
• Check for neurological symptoms, seizures and eye problems.
• For those with skin issues, hydrating lotions and other skin treatments may help.

• RASopathy Network