Marfan Syndrome

The Marfan Syndrome counts to the genetic connective tissue disorders (like EDS). The incidence is 1-2 : 10000. It is caused by a mutation in the gene for fibrillin, which is a basic component of elastic fibers and can be inherited or occur spontaneously. This explains why the Marfan syndrome is a multi-systemic disease.
Unfortunatley, the Marfan Syndrome often remains undetected and can lead to sudden death due to aortic aneurysms.

Especially because of the risk of aneurysms it is so important to get an early diagnose.
As with all genetic diseases the Marfan syndrome can not be cured and is only partially treatable.

Marfan shows similarities with the vascular type of EDS.

Possible features:
tiny body, long limbs
eye problems (myopia, retinal detachment)
aortic aneurysms (which usually remain undetected and tear → main risk for sudden death)
heart valves failure (endocarditis)
narrow jaw, high gum, misaligned teeth
pectus excavatum, scoliosis
Marfan syndrome is diagnosed by the Ghent nosology. A genetic diagnosis is also useful.

Marfan Syndrome can also lead to cranio-cervical instabilities:


Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA. Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.