5 doctors weighed in:

What causes Marfan syndrome?

5 doctors weighed in
Dr. Robert Kwok
Pediatrics
3 doctors agree

In brief: Genetic mutation

Marfan syndrome is caused by a gene mutation (in the fbn1 gene).
A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue.

In brief: Genetic mutation

Marfan syndrome is caused by a gene mutation (in the fbn1 gene).
A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue.
Dr. Robert Kwok
Dr. Robert Kwok
Thank
Dr. Steven Neish
Pediatrics - Cardiology

In brief: Fibrillin mutation

Classic marfan syndrome is an autosomal dominant disease caused by a mutation in the fbn1 gene which codes for fibrillin-1, a component of connective tissue.
Most people with marfan syndrome have an affected parent, but about 25% of marfan syndrome is caused by a spontaneous mutation of the fbn1 gene.

In brief: Fibrillin mutation

Classic marfan syndrome is an autosomal dominant disease caused by a mutation in the fbn1 gene which codes for fibrillin-1, a component of connective tissue.
Most people with marfan syndrome have an affected parent, but about 25% of marfan syndrome is caused by a spontaneous mutation of the fbn1 gene.
Dr. Steven Neish
Dr. Steven Neish
Thank
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