Physical:




1. About 3 outof 4 people with marfan syndrome inherit the defective dominant gene, fibrillin 1 (FBN1), from a parent, while about 1 out of 4 people with marfan syndrome have the gene abnormality by spontaneous mutation.


2. The parent could be homologous or heterozygous for this dominant gene or not even be a carrier. This is possible because the gene mutation can occur during the formation of sperm or egg.


3. With a chance of 1 in 10,000 two unaffected parents can have a child with the defective gene. If the gene is present in one of parents, then the child has a 50% chance. Marfan syndrome affects 1 in 5,000 to 1 in 10,000 people.



4. If a parent has this gene present once, then the child has a 50% chance. If the gene is present twice, one from both parents, then the child has a 75% chance, but if both genes are present from at least one parent, then the child will always have it. It is possible, though, for two unaffected parents to have an affected child with a 0.001% chance.

5. To diagnose marfan syndrome a doctor relies on observations, and complete medical history, including information about family members, physical examination, eye examination, and heart tests such as an echocardiogram.

6. The symptoms of marfan syndrome are unusually long, slender arms, legs, and fingers; nearsightedness; and the tendency for the lenses of the eye to be torn from their supports, or dislocated.

7. People with marfan syndrome dies from complications of the heart or aorta by age 50. Today, with early diagnosis, heart monitoring, and proper medical treatment- marfan patients live longer. The National Marfan Foundation estimates that at least 200,000 people in the United States are affected with the disorder.

8. There is no cure for marfan syndrome, treatment is aimed at minimizing the risk of injury to the heart and aorta. Treatment generally includes avoiding strenuous exercise; undergoing routine echocardiograms to monitor the size and function of the heart and aorta; taking medications that reduce the risk of injury to the aorta by lowering blood pressure; and in rare cases, surgical replacement of the aorta.





Personal:
1. Living with Marfan syndrome can cause social, emotional, and financial stress. It often requires a great deal of adjustment in outlook and lifestyle. For both children and adults, appropriate medical care, accurate information, and social support are key to living with Marfan syndrome. Counseling may also be helpful in understanding the disease and its potential impact on future generations. Early diagnosis and advances in medical technology have improved the quality of life for people with marfan syndrome and lengthed their life span.





2. As answered in the previous question their are limitations socially, and financially when an individual has marfan syndrome.





3. Some organizations that can help a patient deal with marfan syndrome are: Your doctor, Genetic Health Services Victoria, Marfan Association Victoria, and Genetic Support.





4. It is not possible that a cure will be found, but the syndrome can be managed with careful monitoring, surgery and lifestyle changes, including the avoidance of heavy physical activity and contact sports.