Cardiofaciocutaneous Syndrome

What Is Cardiofaciocutaneous Syndrome?

Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition. It is one in a group of conditions called RASopathies (raz-OP-uh-thees). These happen when there's a problem in the way cells communicate in one of the body's pathways.

Cardiofaciocutaneous syndrome (kar-dee-oh-fay-show-kyoo-TAY-nee-iss SIN-drome) causes a group of problems at birth. These affect a child's:

• heart (cardio)
• face (facio)
• skin (cutaneous) 

It also leads to trouble learning and thinking in childhood and later in life. Most children with the condition do well with support, but usually need lifelong help and care.

CFC syndrome is also called cardio-facio-cutaneous syndrome.

What Are the Signs & Symptoms of Cardiofaciocutaneous Syndrome?

A prenatal ultrasound scan may show the first signs that a baby has CFC syndrome, including:

• a body and head that are larger than average
• extra amniotic fluid in the womb

Extra amniotic fluid may:

• make the womb very large
• make the mother uncomfortable
• cause an early delivery

Most children with CFC syndrome are born with some unusual facial features, including:

• a high forehead
• very thin or missing eyebrows
• wide-set eyes
• eyes that don't line up or one eye that wanders (strabismus)
• back-and-forth eye movements (nystagmus)
• drooping eyelids
• a small chin
• a short nose

At birth, most babies with CFC syndrome also have:

• floppy, relaxed muscles (hypotonia)
• trouble feeding

As children with CFC syndrome grow, they usually have:

• many moles on their skin
• many small bumps in the skin (keratosis pilaris)
• wrinkles on the palms and the soles of the feet
• trouble learning, thinking, and speaking
• thin, fragile, curly hair
• slow weight gain and growth (failure to thrive)

Most children with CFC syndrome have a heart problem at birth. In some, the problem is severe enough to cause symptoms right away. Others won't have heart-related symptoms until they are older.

What Happens in Cardiofaciocutaneous Syndrome?

CFC syndrome is caused by a change (mutation) in a gene. During pregnancy, many cell changes happen in the fetus:

• Early (stem) cells change to specialized cells that handle specific jobs.
• Cells grow very fast and move from one part of the body to another.
• Some cells divide and others self-destruct as body parts take shape.

One way that cells communicate with each other is through a pathway. The RAS pathway helps control cell growth. When the links in the pathway work as they should, the fetus' body parts grow and develop in ways that let the baby thrive.

In a child with CFC syndrome, some of the signals are overactive. This makes cells grow and work in ways that lead to problems.

CFC syndrome is a genetic problem, but it's almost never inherited. The change in the child's DNA usually is "spontaneous." This means that a child has the condition but the parents do not. This is called a new mutation.

How Is Cardiofaciocutaneous Syndrome Diagnosed?

If a prenatal ultrasound didn't find the condition before birth, doctors usually notice signs when the baby is born or soon after, such as:

• trouble breathing
• floppy muscles

The doctor will:

• ask about the family history of genetic conditions
• do an exam
• consider other genetic conditions with similar symptoms

A geneticist (a doctor who specializes in genetic disorders) will do genetic testing to see which mutation the child has. Doctors also may order:

• an electrocardiogram (ECG) to check the heart's rhythm
• an echocardiogram
• an MRI
• ultrasounds

How Is Cardiofaciocutaneous Syndrome Treated?

There's no cure for CFC syndrome. Children with the condition are cared for by a team that includes specialists who treat problems related to:

• eyes (ophthalmology)
• nerves, brain, and spinal cord (neurology)
• the heart (cardiology and cardiothoracic surgery)
• the digestive system (gastroenterology)
• skin (dermatology)
• hormone activity (endocrinology)
• DNA (genetics)
• behavior and skill-building (developmental pediatrics)
• movement and life skills (physical therapy and occupational therapy)

Doctors treat a child with CFC syndrome using:

• medicines, surgery, or both for heart and digestive problems
• growth hormone if slow growth is due to a low level of growth hormone
• medicines to stop or slow early puberty
• physical therapy

To treat feeding problems, doctors may place a tube into the stomach:

• through the nose (NG tube)
• through the skin over the stomach (gastrostomy or G-tube)

What Else Should I Know?

Children with CFC syndrome:

• usually do well with support, but most need lifelong help and care
• often reach puberty and the teenage growth spurt earlier or later than their peers
• need ongoing care from a cardiologist to check for heart problems

Connecting to support groups can help children and families deal with the challenges of CFC syndrome. Your child's care team can recommend local resources, and you can find support and information online at:

• CFC International
• Children's Craniofacial Association