Dana+Graham

**Marfan's Syndrome**
Marfan's Syndrome is a genetic disorder caused by a mutation in the gene FBN1, which makes the protein Fibrillin in an indvidual's body. Fibrillin controls the making of the connective tissue in the body.




 * Symptoms **

Symptoms of Marfan's Syndrome include:


 * Crowded teeth due to an arched roof of the mouth
 * A tall and skinny stature with elongated arms, legs, fingers, and toes

On the right is an individual with Marfan's Syndrome


 * Pectus excavatum or pectus carinatum
 * Scoliosis
 * Flat Feet
 * Dislocation of one of more lenses of the eyes, which can lead to retinal detachment, glaucoma, or cataracs
 * Nearsightedness
 * Aortic dilatation, which can lead to aortic dissection, which can lead to sudden death
 * Leaking heart valves that can cause a heart murmur, and more severe leaks can lead to shortness of breath, fatigue, and palpitations
 * Membrane around brain and spinal cord stretch with age and cause slight to severe discomfort in the abdomen and legs
 * Dural ectasia
 * Stretch marks, not due to weight
 * Inguinal hernia
 * Sleep related breathing problems

**Treatments**

There's no cure or specific treatment for Marfan's Syndrome; however, doctors are able to treat certain symptoms associated with the disorder.


 * For a disfigured skeleton, doctors may introduce a back brace and in more serious cases surgery in required
 * Glasses and contact lenses are used to correct nearsightedness, but with other eye issues, surgery may be necessary
 * Heart valve problems can be corrected with beta-blockers, but surgery may be needed in order to replace a valve or repair the aorta
 * For dural ectasia the pain can be treated with pain killers

Side Effects
If given an artificial heart valve there is a risk that blood clots can collect around it. Therefore, they must take Warfarin, which is a blood thinning drug. The side effects of Warfarin being excessive bleeding as well as it being a danger to unborn babies.

Prevention
There is no prevention for Marfan's Syndrome.

Chromosome 15
The genetic mutation for Marfan's Syndrome lies on Chromosome 15. This chromosome codes for the protein Fibrillin, which controls the connective tissue in the body.

Populations Affected
Marfan's Syndrome has been found in all races and ethnic backgrounds. It is a fairly common condition.