Article Translations: (Spanish)
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:
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.
A prenatal ultrasound scan may show the first signs that a baby has CFC syndrome, including:
Extra amniotic fluid may:
Most children with CFC syndrome are born with some unusual facial features, including:
Most babies with CFC syndrome also have:
As children with CFC syndrome grow, they usually have:
Some children might also have seizures.
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.
CFC syndrome is caused by a change (mutation) in a gene. During pregnancy, many cell changes happen in the fetus:
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.
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:
A geneticist (a doctor who specializes in genetic disorders) will do genetic testing to see which mutation the child has. Doctors also may order:
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:
Doctors treat a child with CFC syndrome using:
To treat feeding problems, doctors may place a tube into the stomach:
Children with CFC syndrome:
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:
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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