Marfan syndrome
Marfan syndrome (pronounced: /ˈmɑːrfæn/) is a genetic disorder that affects the body's connective tissue. Connective tissue provides strength and flexibility to structures such as the skin, ligaments, and blood vessels. Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This defect causes an increase in a protein that results in the features of Marfan syndrome.
Etymology
The syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. The term "syndrome" is derived from the Greek "σύνδρομον", meaning "concurrence".
Symptoms
Marfan syndrome affects different people in different ways. Some people experience only mild symptoms, while others experience severe and life-threatening complications. Symptoms can include:
- Tall stature
- Long arms and legs
- Heart and blood vessel problems
- Eye problems
- Skeletal problems
Diagnosis
Marfan syndrome is diagnosed using a variety of methods, including a physical examination, family history, and genetic testing. The Ghent criteria, an internationally recognized tool, is often used to aid in the diagnosis.
Treatment
There is no cure for Marfan syndrome. However, treatment can help to manage symptoms and reduce the risk of complications. Treatment options can include medication, surgery, and lifestyle changes.
Related Terms
See Also
External links
- Medical encyclopedia article on Marfan syndrome
- Wikipedia's article - Marfan syndrome
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