داء مارفان

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder and is caused by mutations in the gene coding for fibrillin-1 (FBN1). MFS is a typical example of a rare disease with a prevalence of <1 per 5,000 and a similar frequency in both sexes and in all countries and races. It is a severe, chronic, life-threatening disease with multiple organ involvement including the skeletal, ligamentous, occulo-facial, pulmonary, abdominal, neurological, and cardiovascular systems.