What are 4 symptoms of Marfan syndrome?
Marfan syndrome features may include:
- Tall and slender build.
- Disproportionately long arms, legs and fingers.
- A breastbone that protrudes outward or dips inward.
- A high, arched palate and crowded teeth.
- Heart murmurs.
- Extreme nearsightedness.
- An abnormally curved spine.
- Flat feet.
What is the life expectancy of someone with Marfan syndrome?
The prevalence of the syndrome is 7-17/100,000. The mean life expectancy for untreated patients with Marfan syndrome is 32 years with aortic dissection, aortic rupture or cardiac failure due to mitral and aortic valve regurgitation as the predominant cause of death in > 90% of the cases.
How do you get Marfan syndrome?
Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue. One in four people with Marfan syndrome develops the condition for unknown reasons. A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child.
Is Marfan syndrome fatal?
How often is the condition fatal? Marfan’s disease used to always be fatal—a person wouldn’t normally live past the age of 45. Today, with aggressive treatment, people can live well beyond that. One of the difficulties is that in patients with Marfan’s disease you tend to chase the aorta.
At what age is Marfan syndrome usually diagnosed?
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 you live a normal life with Marfan?
People with Marfan syndrome who are diagnosed early and receive proper medical treatment can now live a lifespan equal to people in the general population.
At what age is Marfan syndrome diagnosed?
Is Marfan syndrome a disability?
People who have Marfan syndrome are not able to qualify for SSDI benefits under an Social Security Administration (SSA) listing. However, this does not mean that these individuals will be denied benefits. If complications of the condition are severe, these complications can qualify a person for benefits.
Can people with Marfan syndrome live a normal life?
How do they test 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.
What gender is most affected by Marfan syndrome?
Marfan syndrome affects males and females in equal numbers and occurs worldwide with no ethnic predisposition. The prevalence has been estimated to be 1 in 5-10,000 individuals in the general population.
What age is Marfan syndrome usually diagnosed?