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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cardiofaciocutaneous syndrome


Other Names for this Disease
  • CFC syndrome
  • Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
  • Cardio-facio-cutaneous syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of CFC syndrome overlap significantly with those of two other conditions, Costello syndrome and Noonan syndrome. These syndromes belong to a group of related conditions called the RASopathies, which are distinguished by their genetic causes and specific pattern of features. It can sometimes be hard to tell these conditions apart in infancy. CFC syndrome is usually caused by a mutation in the BRAF gene, but can also be due to a mutation in the MAP2K1MAP2K2 or KRAS gene. It is an autosomal dominant condition, but most cases are not inherited, due to a new mutation that occurs for the first time in an affected person.[1] Treatment depends on the symptoms in each person and may include surgery for heart defects.[2]
Last updated: 5/6/2015

References

  1. Cardiofaciocutaneous syndrome. Genetics Home Reference. March 2008; http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome. Accessed 11/7/2011.
  2. Rauen KA. Cardiofaciocutaneous Syndrome. GeneReviews. September 2012; http://www.ncbi.nlm.nih.gov/books/NBK1186/. Accessed 5/6/2015.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • CFC syndrome
  • Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
  • Cardio-facio-cutaneous syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.