Cardiofaciocutaneous syndrome

Overview

What is Cardiofaciocutaneous syndrome?

Cardiofaciocutaneous syndrome (CFC) is a genetic condition that can affect the heart, facial features, skin and hair. Cardio stands for heart. Facio stands for facial features. Cutaneous stands for skin and hair. These are the main parts of the body affected when a person has CFC. Nail differences can be seen as well. People with this condition also have growth delays, delays in development and intellectual disability. The severity of developmental delay and intellectual disability varies from person to person. Not everyone with this condition is affected the same.

The best person to decide whether or not a person has CFC is a geneticist, a doctor who is an expert in genetic conditions. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/cardiofaciocutaneous-syndrome/overview/8881 • DATE UPDATED: 2019-07-15

References

Rauen KA. Cardiofaciocutaneous Syndrome. 2007 Jan 18 [Updated 2016 Mar 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1186/

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