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 European Medicines Agency (EMA) has designated allopurinol as the first orphan drug for the treatment of Marfan syndrome, ...

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 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 ...

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 (MFS) is a complex genetic disorder ... The primary cause of MFS is mutations in the FBN1 gene, responsible for producing fibrillin-1. This condition follows an autosomal dominant ...

The European Medicines Agency (EMA) has designated allopurinol as the first orphan drug for the treatment of Marfan syndrome, a rare connective tissue ...

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 ...

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 ...

Marfan syndrome is a genetic connective tissue disease that mainly affects the cardiovascular, skeletal and ocular systems. It is caused by mutations in the FBN1 gene, which encodes fibrillin-1 ...