Marfan syndrome

Marfan syndrome is a connective tissue disorder that is present in approximately one in every 5 000 people. In Marfan syndrome, a genetic defect prevents the patient from properly producing fibrillin, the protein primarily responsible for the strengthening of connective tissue. Three of four patients with Marfan syndrome have a family member who also has the disease. Marfan syndrome is a dominant trait that is carried by the gene FBN1 which is responsible for the development of fibrillin.

Patients that inherit one affected FBN1 gene will have Marfan syndrome due its dominance. Conversely, any parent with Marfan syndrome has a 50% chance of passing the disease along to a child. The disease affects men and women equally and is not known to have an ethnic predominance. The disease affects men and women equally and is not known to have an ethnic predominance.

Although originally discovered in 1896, it was not until 1996 that official criteria were agreed upon by the international medical community to make a true diagnosis of Marfan syndrome. These criteria were updated in 2010, but consist of a combination of multi system presentation of any of over 30 signs.