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 .
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/
More Overview Content
Are there other names for cardiofaciocutaneous syndrome?
How common is cardiofaciocutaneous syndrome?
What is the usual abbreviation for cardiofaciocutaneous syndrome?
Are there other types of cardiofaciocutaneous syndromes?
What is the prognosis for people with cardiofaciocutaneous syndrome 1?
Are there other names for cardiofaciocutaneous syndrome?
There are other names for cardiofaciocutaneous syndrome. These include:
- Cardio-facio-cutaneous syndrome
- Cardio-facial-cutaneous syndrome
- CFC syndrome
- CFCS
- RASopathy
How common is cardiofaciocutaneous syndrome?
Cardiofaciocutaneous syndrome (CFC) is rare and it is unknown how common it is. Researchers estimate that about 200-300 people in the world have CFC but this is likely not counting the people who have mild disease.
What is the usual abbreviation for cardiofaciocutaneous syndrome?
The usual abbreviation for cardiofaciocutaneous syndrome is CFC or CFCS. However the initials CFC can stand for many different diseases, so always look for a sentence that says they are shortening Cardiofaciocutaneous to "CFC" in an article, webpage, or other document.
References
- http://www.omim.org/entry/115150
- 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/
Are there other types of cardiofaciocutaneous syndromes?
There are several types of cardiofaciocutaneous syndrome that is based on the specific genetic cause. The health concerns associated with CFC overlap and are very similar regardless of the genetic cause.
Cardiofaciocutaneous syndrome 1 is caused by changes in the BRAF gene.
Cardiofaciocutaneous syndrome 2 is caused by changes in the KRAS gene.
Cardiofaciocutaneous syndrome 3 is caused by changes in the MAP2K1 gene.
Cardiofaciocutaneous syndrome 4 is caused by changes in the MAP2K2 gene.
In order to learn more about possible genes involved, people can ask their main doctor or geneticist about testing for genes that could be found in people with CFC.
What is the prognosis for people with cardiofaciocutaneous syndrome 1?
The outcome for people with cardiofaciocutaneous syndrome can vary. Life expectancy depends on the medical concerns of the affected person. On average, life expectancy may be shortened due to severe heart problems seen in some people with CFC.It is important that people with CFC get lifelong care from a doctor who understands the health problems that can occur in CFC.
References
- http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1340
- Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. Journal of Medical Genetics. 2006;43(11):833-842. doi:10.1136/jmg.2006.042796.
