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:
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:
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:
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: