1. What is the Ghent Criteria?
2. What are the symptoms of Marfan Syndrome?
3. What chromosome is the FBN1 gene located on?
4. Who first described this syndrome?
5. Can this disorder be prevented?
Wednesday, March 23, 2011
Tuesday, March 22, 2011
Monday, March 7, 2011
Information
A. Marfan syndrome is a genetic disorder that effects the body's connective tissue. Since the connective tissue is not working correctly many of the body's systems are affected.
B. This syndrome was named after Antoine Marfan who first described the condition after seeing a five year old girl named Gabrielle who had really long limbs. In later studies of the disease more symptoms of the disease were documented
C. People with Marfan Syndrome are unusually tall with long arms, legs, and fingers. Other Symptoms are nearsightedness, a chest that sinks in or out, flat feet, and a spine that curves to one side.
D. The cause of Marfan Syndrome is the defect or mutation of the Fibrillin-1 gene(FBN1) which is located on chromosome 15. It is inherited in an autosomal dominant pattern. People who did not inherit it are the first in their family to get it. This syndrome affects the limbs, eyes, lungs, heart and blood vessels, and nervous system.
E. Marfan Syndrome is diagnosed by looking into the family history, genetic evaluation, and physical examination. If the person does not have a family history of it, then three of the body systems must be affected by the syndrome. Doctors also use a set of guidelines called the Ghent Criteria. This is divided between major and minor criteria. Major is the traits that are common with people who have the syndrome and minor is the traits that are common with many people.
F. There is currently no cure for this syndrome. Since this affects so many body systems the person with the disorder would visit the doctor that specializes in the area that the syndrome has affected.
G. There is no way to prevent Marfan Syndrome. The best thing is early diagnosis.
H. Research that is being conducted about this syndrome is to better understand it and find better treatments. Scientists are studying the genes that play a part in the syndrome and large family groups that are affected.
B. This syndrome was named after Antoine Marfan who first described the condition after seeing a five year old girl named Gabrielle who had really long limbs. In later studies of the disease more symptoms of the disease were documented
C. People with Marfan Syndrome are unusually tall with long arms, legs, and fingers. Other Symptoms are nearsightedness, a chest that sinks in or out, flat feet, and a spine that curves to one side.
D. The cause of Marfan Syndrome is the defect or mutation of the Fibrillin-1 gene(FBN1) which is located on chromosome 15. It is inherited in an autosomal dominant pattern. People who did not inherit it are the first in their family to get it. This syndrome affects the limbs, eyes, lungs, heart and blood vessels, and nervous system.
E. Marfan Syndrome is diagnosed by looking into the family history, genetic evaluation, and physical examination. If the person does not have a family history of it, then three of the body systems must be affected by the syndrome. Doctors also use a set of guidelines called the Ghent Criteria. This is divided between major and minor criteria. Major is the traits that are common with people who have the syndrome and minor is the traits that are common with many people.
F. There is currently no cure for this syndrome. Since this affects so many body systems the person with the disorder would visit the doctor that specializes in the area that the syndrome has affected.
G. There is no way to prevent Marfan Syndrome. The best thing is early diagnosis.
H. Research that is being conducted about this syndrome is to better understand it and find better treatments. Scientists are studying the genes that play a part in the syndrome and large family groups that are affected.
Thursday, March 3, 2011
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