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Essay / Genetic Disorders: Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous Syndrome is a very rare and serious genetic disorder that usually affects an individual's heart, facial features, and skin. It is caused by a disjointed genetic mutation, which occurs in one of four genes. These genes are known as BRAF, MEK1, MEK2 and KRAS. Based on the research, it is also suspected that there is a possibility of other genes being associated with this rare disease. This disease has several alternative names, a long history, obvious symptoms, lots of interesting data and is fortunate to be supported by many organizations who will stop at nothing to help. This rare genetic disease has several alternative names. The shortest syndrome is called CFC syndrome, but the other two are as long as the initial term of the disorder. They are known as cardiofacial-cutaneous syndrome and faciocardiocutaneous syndrome. It was first built in 1986 by JF Reynolds and his associates in two locations; Shodair Children's Hospital in Helena, Montana and the University of Utah. His explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all suffered from psychological disabilities and similar aberrations in the appearance of their faces, hair, skin, nails and hearts. Cardio-facio-cutaneous syndrome can be generated by various genetic mutations. As mentioned earlier, four genes can cause this disease in an individual. The most common mutation is the BRAF gene, as it is responsible for approximately 75 to 80 percent of each case of the syndrome. The two genes, MEK1 and MEK2, are very similar and together are the result of 10 to 15 percent of ...... middle of paper ...... Cutaneous syndrome." Cardiofaciocutaneous syndrome. Np, nd Web. November 29, 2013. "Cardiofaciocutaneous syndrome health article." Cardiofaciocutaneous syndrome, nd Web, November 29, 2013. "CFC International - Services." 2013. .Dictionary.com, nd Web, November 27, 2013. .Schepis, Carmelo, Donatella Greco and Corrado Romano “Cardiofaciocutaneous syndrome (CFC).” 40.2 (1999) : 111-13..