Marfan Syndrome: Causes, Tests and Treatment Options
Jennifer Laws, MA
Gary Brookfield, MD (Ed.)
Smashwords Edition
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Copyright 2011 Jennifer Laws, MA Gary Brookfield, MD (Ed.)
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Contents
Marfan Syndrome Related Organizations
Marfan syndrome, Marfan’s syndrome, or MFS, is a genetic disorder that affects connective tissue. Numerous organs might be affected in men and women with Marfan syndrome. The cardiovascular, skeletal, and ocular systems are usually affected, along with the lungs and skin. The specific symptoms and the severity of Marfan syndrome vary enormously from case to case.
Marfan syndrome is a genetic disorder and is inherited as an autosomal dominant trait. Defects or mutations of the fibrillin-1 (FBN1) gene are linked to Marfan syndrome.
Marfan syndrome affects males and females in equal ratio and occurs around the globe without having ethnic or geographic predisposition. The prevalence is estimated to be 1 in 3.000 to 5.000 individuals. Due to difficulties in diagnosing mild Marfan syndrome, the condition might be underdiagnosed, which makes it challenging to ascertain its correct frequency inside the typical population.
The following disorders have symptoms which are often equivalent to these of Marfan syndrome. Comparisons are crucial to arrive at a suitable diagnosis: