Cardiofaciocutaneous Syndrome (CFC)
What Is Cardiofaciocutaneous Syndrome?
Cardiofaciocutaneous syndrome (CFC) is a genetic condition that is part of a larger group of conditions called RASopathies. RASopathies arise when something goes wrong in a pathway involved in the way the cells of our bodies communicate the information they need to function properly. Since the cells of our bodies make up our tissues, organs and organ systems, RASopathies can have widespread effects on growth, development and health.
CFC is considered a ‘very rare’ condition, as there are only about 200 to 300 people worldwide who have been diagnosed with it. Most cases of CFC are not inherited from a parent. The genetic change that causes CFC is almost always brand new, having occurred for the first time in the person affected by the condition.
What Causes CFC?
In CFC, the genetic changes (sometimes called mutations or genetic variants) associated with the condition lead to an overfunctioning of a signaling pathway. This means that part of the signaling pathway remains activated, or turned “ON”, even when it should be “OFF”. Most commonly, CFC occurs due to a genetic change in one of four genes that are part of the RAS pathway: BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), KRAS, and YWHAZ. However, in some cases, a person with the clinical features of CFC will not have a genetic change in any of these genes.
What Are the Signs & Symptoms of CFC?
CFC is usually diagnosed in infancy by a clinical assessment, characteristic physical features, and a series of tests. The name cardiofaciocutaneous syndrome reflects the physical features of the condition. Cardio refers to changes in the structure and/or function of the heart, facio to distinctive facial features, and cutaneous to changes seen in the skin, hair and nails. The specific signs and symptoms vary among people who have CFC and may appear at different ages.
How Is CFC Diagnosed?
A doctor who specializes in this disorder will complete an evaluation to confirm a diagnosis of CFC. A diagnosis is made using clinical criteria and often confirmed with genetic testing. Genetic testing is done from a blood sample. The purpose is to identify DNA changes in one of the genes associated with CFC.
How is CFC Treated?
There is no single or universal treatment for CFC. Treatment plans are created by a healthcare team with input from the patient and their family. Some symptoms may require more regular follow-up with specialists than others.
Specific recommendations for care may also depend on the person’s age and the severity of their symptoms. Regularly scheduled follow-ups with specialized healthcare providers can help inform appropriate screening, testing, and treatment recommendations for common health issues that affect someone with CFC.
As with any condition that may result in intellectual and developmental differences, early intervention programs are a useful resource. In some cases, children with CFC may benefit from extra support in school with an individualized education program (IEP). A child’s providers—like a genetic counselor or social worker—can assist in advocating for an IEP.
What Are the Long-Term Effects of CFC?
One of the reasons it’s important to confirm a diagnosis of CFC as early as possible is because the condition may vary from person to person and the specific genetic change can give some information on the severity and progression of the condition. The life expectancy also differs among people affected by CFC. Much like other RASopathies, congenital heart defects are the major cause of shortened life expectancies and death in those affected by it.
Although some children with CFC may have more serious health complications, many children will make developmental progress at their own pace. Speech, physical, and occupational therapies, behavioral interventions, and other specialized services can help children with CFC to reach their full potential.
Our team works closely with researchers who study RASopathies, like CFC. Thus, we are informed of cutting-edge technologies and treatments that may benefit the children in our care. We can connect interested children and families with opportunities to participate in research studies that can help us better understand the RASopathies and possibly contribute to the discovery of future treatments.
To schedule a first-time or return appointment, please call the Division of Genetics directly at 312.227.6120.
For more information, please call our Clinic Coordinator, Carolyn Serbinski at 312.227.4391.
For more information about CSF, support groups, and research projects, visit these online resources: