What is Cardiofaciocutaneous Syndrome?
Cardiofacialcutaneous (CFC) syndrome is a rare genetic condition that affects 200-300 people worldwide. Common features of CFC syndrome include congenital heart disease, characteristic facial features and skin abnormalities. Almost everyone with CFC syndrome will have some range of intellectual disabilities, ranging from mild to severe.
Common Issues with Cardiofaciocutaneous Syndrome
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:
Many with CFC syndrome have skin issues, including dry skin and rough patches of skin (hyperkeratosis). Sometimes people develop small bumps on their arms, legs or face (keratosis pilaris). Some people with CFC may also have brown spots, called café-au-lait spots, or red birthmarks, called hemangiomasPhysical Features
People with CFC syndrome have distinct facial features which can change over time. These include a high forehead, long face, full lips, a short nose, and low set ears. Eyes are often widely spaced. People may have drooping upper eyelids. Although those with CFC syndrome share many facial features, they also look like 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, flat feet and short stature.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 kind of intellectual disabilities, ranging from mild to severe. Some people also have seizures which start in infancy or childhood.
People with CFC syndrome can have eye problems such as crossed eyes (strabismus) and involuntary eye movement (nystagmus).
Diagnosis and Genetics of CFC Syndrome
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: BRAF, MAP2K1, MAP2K2, or KRAS.
Most people have two copies of each gene in their genetic make-up. 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 one of the genes listed above. Males and females are equally affected. Typically, the mutation is a new change that happens by chance. Usually, 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 and Management
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 like people who have the same heart defect but do not have CFC syndrome. People with CFC syndrome who do not have heart issues are evaluated every couple years. 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 or use of a feeding tube.
- Medications may be used to stop seizures.
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.
Prognosis for Patients with CFC Syndrome
CFC syndrome is a lifelong disorder. Life expectancy depends on the severity of the heart defect and the other medical complications present.