Features Of Marfan Syndrome
What is Marfan Syndrome
Marfan syndrome is a genetic disorder that affects the connective tissue in the body. Connective tissues are one of the most important parts of the body. Connective tissues holds together all of the body’s cells, organs and other tissues. The connective tissues play a major part in ensuring the proper growth and development throughout the body.
Marfan syndrome affects a protein called fibrillin-1. Marfan syndrome is caused by a defect in the gene that tells the body how to make filbrillin-1. This defect causes an increase in the protein called transforming growth factor beta. Since connective tissues are found all over the body, there is almost no limit to what can be affected by Marfan syndrome. Features of Marfan …show more content…
When it comes to inheriting a disease or condition it depends on the type of chromosome affected, non sex (autosomal) or sex chromosome, and whether the trait is dominant or recessive. Marfan syndrome is an autosomal dominant defect. Marfan syndrome can be passed on to both men and women and it affects all ethnic groups. Nearly 1 out of 5,000 people have Marfan syndrome. Although Marfan syndrome is usually inherited, about 1 out of 4 people who have Marfan syndrome are the first in their family to have it. When this happens it is called a spontaneous mutation. The other 3 out of 4 people with Marfan syndrome inherit it from a parent. The chances of a parent with Marfan syndrome passing along the genetic mutation to each child they have is 50 percent.
Signs of Marfan syndrome People who have Marfan syndrome are born with it but the features of the disorder are not always present at birth. Some people show many symptoms at birth or in early childhood. Some of these symptoms can be mild, like long fingers and toes, or the can be serious, like an aortic enlargement. Many other people have very few features of Marfan syndrome when they are younger and don’t show any signs until they are teens or adults. As with most things, early detection can help save a …show more content…
Marfan syndrome can affect anyone regardless of sex, race and socioeconomical background. Marfan syndrome affects the connective tissue in the body. Even though people who have Marfan syndrome are born with it, it may begin to show signs at any point in your life. If you have Marfan syndrome then the best thing you can do is make sure you have regular visits to the doctor and follow the medical treatments given to you. Although there is currently no cure for Marfan syndrome, you can still live a long and healthy life with early detection and proper medical
Marfan syndrome is a genetic disorder that affects the connective tissue in the body. Connective tissues are one of the most important parts of the body. Connective tissues holds together all of the body’s cells, organs and other tissues. The connective tissues play a major part in ensuring the proper growth and development throughout the body.
Marfan syndrome affects a protein called fibrillin-1. Marfan syndrome is caused by a defect in the gene that tells the body how to make filbrillin-1. This defect causes an increase in the protein called transforming growth factor beta. Since connective tissues are found all over the body, there is almost no limit to what can be affected by Marfan syndrome. Features of Marfan …show more content…
When it comes to inheriting a disease or condition it depends on the type of chromosome affected, non sex (autosomal) or sex chromosome, and whether the trait is dominant or recessive. Marfan syndrome is an autosomal dominant defect. Marfan syndrome can be passed on to both men and women and it affects all ethnic groups. Nearly 1 out of 5,000 people have Marfan syndrome. Although Marfan syndrome is usually inherited, about 1 out of 4 people who have Marfan syndrome are the first in their family to have it. When this happens it is called a spontaneous mutation. The other 3 out of 4 people with Marfan syndrome inherit it from a parent. The chances of a parent with Marfan syndrome passing along the genetic mutation to each child they have is 50 percent.
Signs of Marfan syndrome People who have Marfan syndrome are born with it but the features of the disorder are not always present at birth. Some people show many symptoms at birth or in early childhood. Some of these symptoms can be mild, like long fingers and toes, or the can be serious, like an aortic enlargement. Many other people have very few features of Marfan syndrome when they are younger and don’t show any signs until they are teens or adults. As with most things, early detection can help save a …show more content…
Marfan syndrome can affect anyone regardless of sex, race and socioeconomical background. Marfan syndrome affects the connective tissue in the body. Even though people who have Marfan syndrome are born with it, it may begin to show signs at any point in your life. If you have Marfan syndrome then the best thing you can do is make sure you have regular visits to the doctor and follow the medical treatments given to you. Although there is currently no cure for Marfan syndrome, you can still live a long and healthy life with early detection and proper medical