Cardiofaciocutaneous syndrome


My child was just diagnosed with cardiofaciocutaneous syndrome, what should we do next?

After finding out a child has a diagnosis of cardiofaciocutaneous syndrome, it is important that the child is evaluated by multiple specialty doctors. These include:

  1. Genetics doctor to help with the management of CFC
  2. Heart doctor (cardiologist) or testing to look at the development and functioning of the heart
  3. Early intervention or developmental pediatrics evaluation to identify developmental delays
  4. Eye doctor to perform baseline eye exam
  5. Other children may need to see a kidney doctor, skin doctor, or bone doctor depending on the individual health problems. Each person with CFC is different.
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Is there a cure for cardiofaciocutaneous syndrome?

Is there a cure for cardiofaciocutaneous syndrome?

There is no cure for cardiofaciocutaneous syndrome. Treatment is limited to management and surveillance of medical concerns. CFC affects many different areas of the body and therefore, it is important to be followed by medical professional throughout life.

Specific treatments to help with health problems include:

  1. Feeding problems and poor weight gain (failure to thrive): may need to take medicine to help with reflux or may need a feeding tube to help get all the food and nutrients
  2. Poor growth: some people with CFC can have a growth hormone deficiency meaning that their bodies do not make enough of the hormone. Therefore, this is treated by giving growth hormone to the person by a specialized hormone doctor (endocrinologist)
  3. Developmental delays: enrollment in early intervention programs to get therapies such as physical therapy, speech therapy, or occupational therapy
  4. Seizures: can be treated with medications
  5. Heart differences: may need medication or surgery. Often people with CFC will get imaging of the heart every year to monitor for heart problems
  6. Other health problems which can occur in CFC are treated the same as the general population.

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