Topic > Genetic Disorders: Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects an individual's heart, facial features, and skin. It is caused by an occasional genetic mutation, which occurs in one of the four genes. These genes are known as BRAF, MEK1, MEK2 and KRAS. From the research it is also suspected that there is a possibility that other genes are associated with this rare condition. This disorder has multiple alternative names, a long history, noticeable symptoms, large amounts of interesting data, and is fortunate enough to be supported by numerous organizations that will stop at nothing to help. This rare genetic disorder has multiple alternative names. The shortest is called CFC syndrome, but the other two are as long as the original term of the disorder. They are known as cardio-facial-cutaneous syndrome and facio-cardio-cutaneous syndrome. It was first performed in the year 1986 by JF Reynolds and associates in two spots; Shodair Children's Hospital in Helena, Montana and the University of Utah. His explanation was deduced from examining eight unrelated patients who all shared many of the same characteristics. All had psychological disabilities and similar aberrations in the appearance of the face, hair, skin, nails and heart. Cardiofaciocutaneous syndrome can be generated through various genetic mutations. As mentioned above, there are four genes that can cause this condition in an individual. The most frequent mutation among these is the BRAF gene, because it is responsible for approximately 75-80% of each case of the syndrome. The two genes, MEK1 and MEK2, are very similar and together are the result of 10-15% of the... middle of paper... ocutaneous syndrome." Cardiofaciocutaneous syndrome. Np, nd Web. November 29, 2013. "Article on health of cardiofaciocutaneous syndrome". Np, nd Web November 29, 2013. "CFC International - Services". International - Services. Np, November 29, 2013. "Cardiofaciocutaneous syndrome", May 16, 2012. Web November 29, 2013. Dictionary.com 2013. .Schepis, Carmelo, Donatella Greco, and Corrado Romano (CFC). Australasian Journal of Dermatology 40.2 (1999): 111-13. Press.