At what age is Marfan syndrome detected?
We found a median age at diagnose of 19.0 years (range: 0.0-74). The age at diagnosis increased during the study period, uninfluenced by the changes in diagnostic criteria.
Can Marfan syndrome be diagnosed at birth?
Marfan syndrome is a birth defect. Birth defects are health conditions that are present at birth.
What does a child with Marfan syndrome look like?
People with Marfan syndrome are often tall and slender with long fingers and toes. They also may have a long face, deep-set eyes, a small jaw, and a high-arched roof of the mouth with crowded teeth.
Is Marfan syndrome obvious?
The symptoms of Marfan syndrome differ from one person to the next, depending on which body part is affected and to what degree. Some people may not even realise they have the condition, because their features are either mild or not obvious.
Did you know facts about Marfan syndrome?
Marfan syndrome is a disorder that affects the body’s connective tissue. Connective tissue is the muscles, tendons, cartilage, and other parts that hold your bones, joints, organs, and tissues together. In Marfan syndrome, the connective tissue is weaker than normal so it stretches, bulges, or tears.
Should I have children if I have Marfan syndrome?
Pregnancy creates extra stress on the heart and blood vessels. The biggest concern for patients with Marfan syndrome is serious complications of the aorta, such as a tear or rupture that can cause death or serious injury to both you and your unborn baby. The risk is greatest if your aorta is dilated more than 4 cm.
Is there a cure coming soon for Marfan syndrome?
While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing. In the past, people who had Marfan syndrome often died young.
How tall is the average person with Marfan syndrome?
Mean final height was 191.3 +/- 9 cm for males and 175.4 +/- 8.2 cm for females. Mean birth weight was 3.51 +/- 0.74 kg for males and 3.48 +/- 0.68 kg for females.
How does Marfan syndrome affect babies?
Marfan syndrome is a genetic disorder that affects the connective tissue. A child with Marfan syndrome may have problems with the bones and joints, heart and blood vessels, and eyes.
Did Ann Reinking have Marfan syndrome?
Reinking, the Tony Award-winning actor, dancer, and choreographer who is best known as Roxie Hart in Chicago on Broadway, was a force in the Marfan syndrome community for more than twenty years.
How do you test yourself for Marfan syndrome?
A blood test can be used to help diagnose Marfan syndrome. This blood test is highly specialized and looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome. Genetic counseling should accompany genetic testing because FBN1 testing is not always straightforward.