Marfan+Syndrome

**Causes:**

 * ======Autosomal======
 * ======Mutations in the FBN1 gene======
 * ======Inherited as a dominant trait======
 * ======Encodes a connective protein called fibrillin 1.======

**Pattern of Inheritance:**
> ============
 * Single allele dominant
 * In 75% of case one parent is also affected by Marfan Syndrome
 * In 25% of cases it is a new spontaneous mutation in the causative gene


 * Skeleton- Typically taller, slender, loose jointed, (Affects long bones and skeleton, limbs may be disproportionately long compare to the rest of the body. Person with Marfan syndrome may have long narrow face, roof of mouth may be arched causing teeth or be crowed
 * ======Eyes- May experience dislocation of one or both eye lenses. Lens may be slightly higher or lower then normal. Or may be further to one side then the other. Dislocation may be minimal or more obvious.======
 * ======Nervous system- The brain and spinal cord are surrounded bu fluid contained by a membrane called the dura. As someone with Marfan syndrome gets older the dura weakens======
 * ======Skin- People with Marfan Syndrome develop stretch marks on their skin, even without weight change. Stretch marks may occur at any age.======
 * Marfan Syndrome affects about 1 in every 10,000 individuals

**Treatments:**
No cure for Marfan Syndrome People who's:
 * skeletal system is affect by Marfan Syndrome have annual evaluations
 * Eyes are affect have regular eye exams to help identify and correcting any vision problems
 * Heart and Blood vessels should have regular check ups.
 * Surgery can be performed before the aorta reaches a size the puts the person at high risk.

**Prevention:**
There is no way to prevent Marfan Syndrome. Early diagnosis can help prevent serious complications. Genetic counseling enables informed decisions about childbearing and provides up-to-date information about the genetic basis of Marfan Syndrome and genetic testing for this condition.

There is no specific laboratory test that is used to make a Marfan Syndrome diagnosis. To make a diagnosis your doctor will rely on
 * Testing:**


 * Observation
 * A complete medical history
 * A physical exam
 * Certain tests

Work Cited: [] []

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http://www.marchofdimes.com/birthdefects_marfan.html

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Erin Kissel, Ian Stebbins, Eric Enzman, Tori Radick