Major symptoms include overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of the spine (scoliosis), indentation or protrusion of the chest wall (pectus deformity), dislocation of the lenses of the eyes (ectopia lentis), nearsightedness (myopia), widening (aneurysm) and tear (dissection) ...
Marfan syndrome features may include: Tall and slender build. Disproportionately long arms, legs and fingers. A breastbone that protrudes outward or dips inward.
Finally, Marfan syndrome may lead to curvature of the spine, an abnormally shaped chest that sinks in or sticks out, long arms, legs and fingers, flexible joints and flat feet. Because of this, people with the condition are typically taller and thinner in stature.
A blood test can help diagnose Marfan syndrome. This genetic test looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome. A genetic counselor should review your genetic testing because FBN1 test results are not always obvious.
Both Marfan and Loeys-Dietz syndromes affect the connective tissue of the heart, spine, joints and eyes, but Loeys-Dietz is also marked by twisted arteries that are prone to aneurysms, a feature absent in Marfan.
The symptoms of Marfan syndrome differ from one person to the next, depending on which body part is affected and to what degree. Some people may not even realise they have the condition, because their features are either mild or not obvious.
The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis ) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta ).
If you have Marfan syndrome, you are at risk for a life-threatening problem in an important blood vessel in your chest called the aorta. If your aorta is weaker or larger than normal, it is important to know symptoms of a dissection, or rupture.
Interestingly, the final height of males with MFS is almost identical in different countries: 191.2±8.4 cm in France, 191.4±5.2 cm in Korea (9), and 191.3±9.0 cm (8) in the United States. This is true despite the difference in men's final height in each general population (174.4 vs.
If there is not a coordinated clinic in your area, we recommend making an appointment with a geneticist or cardiologist because they are usually the specialists with the most expertise in these conditions and can provide appropriate referrals to other necessary specialists. The Marfan Foundation can help.
Many people with Marfan syndrome have difficulty gaining weight, especially when they are younger, no matter how much they eat and how many protein shakes they consume.
The most life threatening complication of Marfan syndrome is aortic aneurysm which can lead to aortic dissection, rupture or both.
For people with Marfan syndrome active sports such as track, basketball, baseball, volleyball, football, and strenuous activities such as heavy lifting should be avoided because they cause additional heart strain.
Many people with Marfan syndrome have pain in and around their joints – most commonly in the hips.
Marfan syndrome (MFS) is a connective tissue disorder inherited in an autosomal dominant fashion. Up to 25% of MFS patients have a de novo mutation. Prevalence is 1 in 5000 individuals, affecting both sexes equally [1].
Many people with Marfan syndrome and some related disorders have narrow jaws and high-arched palates, which can create dental and orthodontic problems.
Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If a Marfan mutation is found, family members can be tested to see if they are also affected.
Abraham Lincoln is the most famous American who had Marfan syndrome. So did Julius Caesar and Tutankhamen. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.
Patients with Marfan syndrome have a higher chance of having certain eye conditions. Many people with Marfan syndrome will need glasses because they will develop myopia (nearsightedness) or have astigmatism (abnormal curvature of the eye).
Typically, a person's arm span should be less than their body height; an increased arm span to body height ratio of >1.05 is considered a positive sign for Marfan syndrome.
In 23 (46%) patients, there was no known family history of Marfan syndrome. Mean BMI was 25.4±7.4 kg/m2, with 18 (36%) patients having an elevated BMI. Positive smoking status was present in 15 (30%), hypertension in 13 (26%) and hyperlipidemia in 19 (38%) patients.
People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes. People who might have Marfan syndrome should be evaluated to help reduce the risk of potential heart problems. It isn't always easy to diagnose Marfan syndrome because it affects everyone a little differently.