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Genetic and Rare Diseases Information Center (GARD)

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Cardiofaciocutaneous syndrome

Other Names for this Disease
  • Cardio-facio-cutaneous syndrome
  • CFC syndrome
  • Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
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Your Question

How does cardiofaciocutaneous syndrome affect an individual's livelihood?

Our Answer

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How does cardiofaciocutaneous syndrome affect an individual's livelihood?

Livelihood is significantly affected by cardiofaciocutaneous (CFC) syndrome.  Nearly all individuals with CFC syndrome have intellectual disability or learning problems, ranging from moderate to severe.  There are rare reports of individuals with CFC syndrome who have normal intelligence.  Because CFC syndrome may also cause muscles to be weak (hypotonia), learning to perform routine movements and tasks can be challenging.  Though some individuals with CFC are able to participate in assisted living communities as adults, most require continuous care by a team of providers.[1]  The CFC International organization has created a booklet called "A Parent's Guide to the Cardio-Facio-Cutaneous Syndrome: Caring, Facilitating & Connecting" that provides more detailed information about the impact of CFC syndrome.
Last updated: 3/13/2012