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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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Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart in infancy. This condition is caused by mutations in the BRAF, MAP2K1, or MAP2K2 gene. CFC syndrome is an autosomal dominant condition; but all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family.[1]
Last updated: 11/7/2011


  1. Cardiofaciocutaneous syndrome. Genetics Home Reference. March 2008; Accessed 11/7/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cardiofaciocutaneous syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cardiofaciocutaneous syndrome. Click on the link to view a sample search on this topic.