Marfan Syndrome Research Paper
Marfan Syndrome is caused by a genetic mutation. Marfan can be passed on from parents or can occur spontaneously. The disorder happens in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. The mutation results in an increase in a protein called transforming growth factor beta, or TGF-B. The increase causes the problems in the connective tissues of the body.
Marfan Syndrome is an autosomal recessive disorder. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
Marfan disorder was first discovered by Antoine Marfan. He was a French doctor in 1896 that discovered the disease through a five-year-old girl who he described as having …show more content…
About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation.
Features of the disorder are not always present right away. Marfan features at birth or as young children can include serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.
The phenotype is the physical appearance of somebody who has the disorder. People with Marfan syndrome have long arms, legs and fingers, tall and thin body type, curved spine, chest sinks in or sticks out, flexible joints, flat feet, crowded teeth, and stretch marks on the skin that are not related to weight gain or loss. Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable
Marfan Syndrome is an autosomal recessive disorder. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
Marfan disorder was first discovered by Antoine Marfan. He was a French doctor in 1896 that discovered the disease through a five-year-old girl who he described as having …show more content…
About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation.
Features of the disorder are not always present right away. Marfan features at birth or as young children can include serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.
The phenotype is the physical appearance of somebody who has the disorder. People with Marfan syndrome have long arms, legs and fingers, tall and thin body type, curved spine, chest sinks in or sticks out, flexible joints, flat feet, crowded teeth, and stretch marks on the skin that are not related to weight gain or loss. Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable