Marfan Syndrome is one of many conginenital heart defects that plague many new-born’s. One in every one hundred babies born has at least one type of a congenital heart defect. But, only one in every twenty thousand births has this certain type of congenital heart defect. It is caused by mutations of the fibrillin I precursor (FBI). The gene for Marfan syndrome is nine thousand six hundred and sixty two bases long. There is only one pair of genes that cause Marfan syndrome.
It can be inherited from a parent affected by the condition or from an unaffected parent who had / has a mutation in his sperm or her egg. Only one of the parents has to be infected with it for the child to have it. Two thirds of people that have Marfan syndrome got it from a parent with it and a fourth of them occur as a result of spontaneous mutation of the gene that causes Marfan syndrome. Marfan syndrome is autosomal dominant heterozygous, but can in some rare occasions it can be autosomal recessive, because it does not occur on one of the sex chromosomes. New mutations occur spontaneously and often in the DNA of he eggs and sperm of each parent. It happens by chance when it occurs in the gene that carries the Marfan syndrome.
A big symptom of Marfan syndrome is elongated limbs. Other symptoms are multiple skin folds over entire surface of body, increased high, interior chest deformity, vertebral column deformity, and others. Also spinal curvature and crowded teeth are two other common symptoms. The symptoms of Marfan syndrome can start as early as birth. Though in some cases as late as ten or twelve years old.
It all depends on your type of Marfan syndrome. Half of the children with parents with marfan syndrome will get there parents marfan syndrome disorder passed down to them. It rarely ever skips a generation too. But this disorder does not affect certain race or ethnic group. Any man or women from any ethnic background can have Marfan syndrome. At this time there is no way to stop Marfan syndrome from being passed down to the next generation.
It occurs in almost every generation too, so the child, grandchild, great grandchild, and so on of a person with Marfan syndrome will most likely have it. In some cases this can affect the life span of someone. In most cases it is only by a few years. But in some more extreme cases a persons life span can be shorten a lot.
Though, new technology developments and surgical techniques are increasing people’s life span that has this disorder. To increase your lifespan, if u has this disorder, is to have annual echocardiogram eye exams, having your skeletal system carefully monitored, being prescribed beta-blocker medication, and staying away from strenuous exercise. At this time there is no cure for Marfan syndrome. A cure would involve altering the fibrillin gene responsible for the disorder. The location of the gene for Marfan syndrome, fibrillin, offers promise for the diagnosis of the disorder.
But, doctors recommend regular examinations by specialists in cardiology, ophthalmology, and orthopedics. Mogill’s Medical Guide Volume II fracture and dislocation-paralisys. Tracy Irons-Georges Salem Press Inc. California. 2002 Genetic Disorders Source Book. Volume thirteen.
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