TeSTING AND DIAGNOSIS

How is CFC syndrome diagnosed?

In the past, the diagnosis of CFC was based on the clinical features, medical, and developmental history of the child. However with the recent discovery of genes that cause CFC, we are now able to offer genetic testing for any individual suspected of having the diagnosis. There are still some individuals with CFC syndrome who do not have a mutation in one of these genes, which suggests that there may be other genes associated with CFC syndrome that have not yet been identified.

what are the chances of having another child with cfc?

Almost all cases of CFC syndrome have been sporadic, meaning that only one person in the family has CFC syndrome. There are a few documented cases of CFC syndrome occurring in siblings, but this is rare. If neither parent has CFC syndrome nor a mutation in one of the genes, then the chance of having another child with CFC syndrome is very low (<1%). Prenatal diagnosis could be considered and offered to parents in subsequent pregnancies for reassurance. Individuals who have CFC syndrome, however, have a 50% chance of having a child with CFC syndrome.  Currently, there is no way to predict the severity of the condition in offspring.

what other evaluations should my child have?

Management of the child with CFC syndrome should include the following evaluations:

  • Dermatology evaluation

  • Neurological assessment

  • Electroencephalogram (EEG) if seizures are suspected

  • MRI of the brain to detect any structural changes of the brain

  • Regular ophthalmology (eye) examinations

  • Regular cardiac (heart) evaluations

  • Referral to endocrinology if growth is delayed

  • Psychomotor and developmental assessment

  • Enrollment in early intervention therapies to promote growth, motor, and intellectual development – such as occupational therapy (OT), physical therapy (PT), or speech therapy.


Written by: Pilar L. Magoulas, MS, CGC, Baylor College of Medicine
Reviewed and modified by Katherine A. Rauen, PhD, MD, UC Davis MIND Institute, 2015

This information is not intended to serve as medical advice and should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If you suspect your child or loved one may have CFC Syndrome, you should consult your health care provider.