Marfan syndrome in the neonatal age represents a severe early and commonly lethal manifestation of Marfan syndrome, which is caused by mutations in the gene encoding fibrillin-1 (FBN1). Here, we ...

Marfan syndrome is a genetic condition. It occurs because of a mutation (change) in one of your genes that develops before you’re born. It’s a type of connective tissue disorder, meaning it affects ...

The syndrome is named for its discoverer, Antoine Marfan. It is an inherited disorder but the gene that is responsible for Marfan is complex, and produces a significant number of small mutations.

The condition is caused by a single abnormal mutation of the gene, fibrillin, a connective tissue which is known as the “glue and scaffolding of the body”. Marfan syndrome is often hereditary ...

Mutations in either TGFBR1 or TGFBR2 predispose ... the William S. Smilow Center for Marfan Syndrome Research, the Howard Hughes Medical Institute, the Robert Wood Johnson Foundation, the Dana ...

About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. Others with Marfan syndrome are the first in their family to have it ...

Marfan Syndrome is a genetic disorder of the body's connective tissue. The compromised state of the body's connective tissue comes as a result of a mutation, or change, in the FBN1, or fibrillin ...

Marfan syndrome can be difficult to spot ... They're a spontaneous mutation." Along with a dilated aortic root (enlarged aorta) or narrow dissection (tear in an artery), patients also run the ...

A mutation in the gene that controls the structure of a protein called fibrillin-1 causes Marfan syndrome. The disease happens when a mutation in two genes responsible for type 1 collagen lowers ...

Marfan syndrome is caused by a genetic mutation that leaves connective tissue in the body weak, according to the National Institutes of Health. The defective gene can also cause excessive growth ...

Alternatively, in approximately 25-30% of those with Marfan syndrome the condition has developed due to a spontaneous mutation yielding the defective gene. Marfan syndrome affects the body’s ...