Marfan's syndrome epidemiology and demographics

Populations of certain athletes such as basketball and volleyball players have been shown to have an increased incidence of Marfan syndrome (~0.5%) ^[1], perhaps due to skeletal abnormalities associated with the syndrome.

The prevalence of Marfan syndrome is 1 case per 3000 to 5000 individuals or .033 % (upper estimate) ^[2].

Marfan syndrome affects males and females equally,^[3] and the mutation shows no geographical bias.

Neither location nor ethnicity appear to impact the statistics.

Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)^[3] to 200 000^[4] Americans have Marfan syndrome. Each parent with the condition has a 50% chance of passing it on to a child due to its autosomal dominant nature. Most individuals with Marfan syndrome have another affected family member, but approximately 15-30% of all cases are due to de novo genetic mutations^[5] — such spontaneous mutations occur in about 1 in 20 000 births. Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency.^[6][7] It is associated with variable expressivity. Incomplete penetrance, has not been definitively documented.

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