I'm posting this because this disorder is VERY similar NOONAN's which I just posted previous to this one.
(sorry they are so long, they are both very complicated disorders.)
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that provide the framework and support for your body. As a result, Marfan syndrome can involve many different body systems, including your heart and blood vessels, eyes, and skeleton. The damage caused by Marfan syndrome can be mild or severe. The most serious effects of Marfan syndrome can be life-threatening.
People with Marfan syndrome are usually tall and thin, with disproportionately long arms, legs, fingers and toes. Some experts believe Abraham Lincoln may have had Marfan syndrome. According to the National Institutes of Health, Marfan syndrome occurs in at least one person per 5,000.
Because Marfan syndrome can affect so many body systems, the symptoms of the disease vary greatly, even among members of the same family. Some people experience only mild effects, whereas others develop life-threatening complications. In most cases, the disease tends to worsen with age.
Marfan syndrome features may include:
* Tall and slender build
* Disproportionately long arms, legs, fingers and toes
* A breastbone that protrudes outward or dips inward
* A high, arched palate and crowded teeth
* Heart murmurs
* Extreme nearsightedness
* A curved spine
* Flat feet
When to see a doctor
If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. If your doctor suspects a problem, you'll likely be referred to a specialist for further evaluation.
Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Marfan syndrome is an autosomal dominant condition, which means that a defective gene from only one parent is needed to pass the disease on. It also means that each child of an affected parent has a 50-50 chance of inheriting the defective gene.
Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.
Because Marfan syndrome can affect almost any part of your body, it may cause a wide variety of complications.
Cardiovascular complications
The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta, the large artery that curves over your heart and supplies blood to the body, then splits in your pelvis to supply blood to your legs.
* Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your artery to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart. The bulge can spread along the entire length of the aorta, into your abdomen. If it ruptures or tears, you may die.
* Aortic dissection. The wall of the aorta is made up of thin layers. Dissection occurs when a small tear in the innermost layer of the aorta's wall allows blood to squeeze in between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel's structure and often results in a rupture, which can be fatal.
* Valve malformations. People who have Marfan syndrome are also more likely to have problems with their heart valves, which may be malformed or overly elastic. When heart valves don't work properly, your heart muscle often has to work harder to compensate. This can eventually lead to heart failure.
Eye complications
Eye complications may include:
* Dislocation of the lens in one or both eyes because of weakness in the ligaments that hold the lens in place.
* Glaucoma, a condition in which abnormally high pressure within your eyes damages the optic nerve. Symptoms may range from sensitivity to light and glare to severe eye pain, blurred vision and blindness.
* A cataract, which clouds the eye's normally clear lens.
* Detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye.
Lung complications
Marfan syndrome can cause breathing difficulties, either from defective connective tissue or from chest wall abnormalities. Severe spinal curvature or a concave chest, for instance, may restrict your breathing and cause you to feel short of breath during mild or moderate activity. People with Marfan syndrome are also at higher risk of:
* Emphysema
* Chronic obstructive pulmonary disease
* Collapsed lung
* Sleep apnea
Complications of pregnancy
Women with Marfan syndrome face possible complications during pregnancy. The main threat is a rapid increase in the size of your aorta, leading to life-threatening aortic dissection or rupture. Although the risk of dissection during pregnancy is unpredictable, it's generally low if your aorta isn't enlarged before you become pregnant. But if your aorta is even slightly enlarged, the risk increases greatly. Pregnancy isn't recommended if your aorta is enlarged.
April 27, 2010
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