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Marfan syndrome is characterized by a tall and slender stature, long limbs, and disproportionately long fingers and toes (arachnodactyly). Individuals may also exhibit cardiovascular abnormalities, particularly affecting the aorta, as well as skeletal issues like scoliosis and pectus excavatum. Other features can include eye problems such as lens dislocation and myopia. Overall, the phenotype results from mutations in the fibrillin-1 gene, affecting connective tissue throughout the body.
What else can I help you with?
What are the chances of getting marfan syndrome?
Marfan syndrome is found in 1 in every 5,000 - 10,000 births. If one of your parents has Marfan syndrome, you have a 50% chance of having Marfan syndrome.
Is marfan syndrome automsomal dominant?
Yes, Marfan syndrome is autosomal dominant.
What does Marfan syndrome mean?
Marfan Syndrome is a medical problem with the Conective Tissue.
Is Marfan syndrome contagious?
Marfan's syndrome is not contagious. A person can only get it by inheriting it from a parent.
Is Down Syndrome the same as Marfan Syndrome?
No. Down is caused by an extra chromosome while Marfan is due to a mutation in one or more genes.
What are other names for Marfan Syndrome?
Marfan Syndrome is also known as Marfan's disease and hereditary connective tissue disorder. In some contexts, it may be referred to as Marfan syndrome type I or simply as a connective tissue disorder. However, the most common and widely recognized name remains Marfan Syndrome.
What effects can marfan syndrome have on a persons life?
They cant exercise as vigorously as someone without Marfan syndrome
What can be some symptoms for Marfan's syndrome?
flat feet an sinked chest are some symptomes of marfan syndrome
Can animals have marfan syndrome?
Marfan syndrome is not naturally found in animals. However, researchers have created mice with Marfan syndrome in laboratories for the purpose of testing medications on them before conducting human trials.
What is the etiology of marfan syndrome?
The etiology of marfan syndrome would be the mutations in the protein FBN1 in the gene chromosome 15.
How many people in the world haves marfan syndrome?
1 in every 5,00o to 7,000 people have Marfan syndrome.
What is the most serious complication from Marfan syndrome?
Aortic enlargement. This is the most serious potential complication of Marfan syndrome.
