Marfan Syndrome


Marfan Syndrome is a genetic connective tissue disorders (like EDS). 1-2 in 10.000 people will develop Marfan Syndrome. 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. Since elastic fibers are needed throughout the whole body, Marfan Syndrome is a multisystemic disease.

Unfortunately, Marfan Syndrome often remains undetected and can lead to sudden death due to aortic aneurysms. Especially because of this fact, it is so important to get an early diagnosis. Like all genetic diseases, Marfan Syndrome cannot be cured, and is only partially treatable.

Marfan shows similarities with the vascular type of EDS.

Possible features:
Smaller 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)
Fatigue
Hypermobility
Narrow palate, 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.

 

International:

http://www.marfan.org