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Marfan Syndrome 2

Page history last edited by Bradley Vivace 14 years, 7 months ago

Overview

 

Marfan syndrome is an autosomal dominant  genetic disorder affecting the connective tissue of the body.  This affects skeletal and cardiovascular system as well as the eyes and skin. 

 


Causes

 

Marfan syndrome is a result of mutation of the gene Fibrillin-1.  This gene is a key factor in building elastic tissue in the body.  The mutation particularly affects the aorta, eyes and skin.

 


Do I have Marfan Syndrome?

 

Well.....You might.  Marfan syndrome is inherited, but 30 percent of all cases appear sporadic.  These sporadic cases are caused by genetic mutation of Fibrillin-1.  

Those afflicted tend to be taller and thinner in all regard to their body, a condition known as arachnodactyly

Other Symptoms of marfan syndrome include      

  •     Coloboma of the irisPectus excavatum
  •      Flat Feet 
  •      Portuding or funnel chest
  •      Underdeveloped muscles    
  •      Learning disabilty
  •      Scoliosis
  •      Small jaw
  •      Thin narrow face  
  •      Ocular dislocations  
  •      Increased joint dislocations [1] 

Tests 

 

If marfan syndrome is suspected a doctor might perform a cardiological exam such as an echocardiogramand test for hyperlaxity of joints.

An optometrist will test the vision as well as searching for retinal or corenal defects and retinal detachment.

In mutant cases it is possible to test for the defective fibrillin-1 gene.

 


Genetic Occurence[2]

 

Marfan Syndrome is somewhat common, occuring 1 in 5000 births.  This is because it is a dominant disorder.  One allele will show the Marfan phenotype.

 


Treatments and overview 

 

Marfan syndrome cannot be cured, but precautions can be taken.  The afflicted should avoid athletic participation and give the body extra time to heal following medical procedures.  They should also have at least an annual check up.  A reletivly normal life can be lead. 

Aortic aneurysm

The lifespan may be potentially shortend by cardiovascular problems. 

Other complications include

Various support groups also exist to aid those in need.  Some are:

 [3]


Famous People 

 

 

 

 

 

 

Footnotes

  1. "Marfan syndrome: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. N.p., n.d. Web. 2 Nov. 2009. .
  2. "Marfan Syndrome." National Encyclopedia of Health. National Institute of Health, n.d. Web. 1 Nov. 2009. .
  3. "Marfan Syndrome." National Encyclopedia. National Institute of Health, n.d. Web. 1 Nov. 2009. .

Comments (22)

rryoung@... said

at 8:25 am on Oct 29, 2009

You've got a lot of good information...where did it come from? Make certain you cite your source in a footnote. Remember to put links to other pages you have created.

Clinton Blose said

at 9:06 am on Nov 4, 2009

Good picture of real human, and then pictures of the insides to show what is being affected.

Emely Richardson said

at 9:10 am on Nov 4, 2009

Good use of pictures. You may have wanted to make it a little more clear which things were links to new pages becuase at first I thought that the links were just titles. I liked the links that further defined the tough words.

Cheryl Twyman said

at 9:18 am on Nov 4, 2009

The page was very informative, and the pictures really helped see differences of those that are affected by Marfan's Syndrome.

Emily Buis said

at 9:23 am on Nov 4, 2009

There was a lot of well-organized and descriptive information. The pictures offered a very helpful visual.

Emily Mason said

at 4:44 pm on Nov 4, 2009

This is very organized, and it's really easy to find information.

Hannah Jenkins said

at 6:52 pm on Nov 4, 2009

Rent is my favorite show so it was interesting to know the details of how Jonathan Larson died. Also, helpful pictures to really show what is happening with the symptoms.

Aaron Nehamkin said

at 9:38 pm on Nov 4, 2009

The aorta picture gave a very easy-to-understand comparison between a person with and a person without Marfan Syndrome. Good Job!

Saumya Nagar said

at 9:45 pm on Nov 4, 2009

Awesome job...the plentiful links and conveniently placed pictures provide great background to the information. It's very easy to comprehend, and the organization is great.

Kathryn Snyder said

at 6:29 am on Nov 5, 2009

The overview page was especially helpful in trying to understand what Marfan's Syndrome is. I really enjoyed the pictures and the overall way the page is organized.

Michael Burns said

at 8:57 am on Nov 5, 2009

Pretty good. I can understand all the material that is presented here and it is shown in a more chronological method than others.

Audra Cokain said

at 9:11 am on Nov 5, 2009

I like how all the information is on the front page with other links. The pictures are great and I like the Famous People idea. Good info!

Leigh Anderson said

at 9:19 am on Nov 5, 2009

I agree with Audra, it was convenient to have all of the information on one page. The links were esasy to find, and your pictures were very descriptive.

Joseph Wells said

at 9:33 am on Nov 5, 2009

I had no idea that this disorder existed. It was thouroughly explained from genetic mechanism (fibrillin-1) to phenotypic results with pertainent graphics. However, All of the information was presented on one long page. Breaking the material down into a main page and then secondary pages would have been helpful.

Michael Burns said

at 9:33 am on Nov 5, 2009

I was kinda afraid I had it, because my chest does cave in a little, but I literally had none of the other symptoms. For a second, I though my aorta was going to explode.

Emily Mason said

at 9:40 am on Nov 5, 2009

I didn't know this disease affected so many parts of the body! I also find it interesting that Osama bin Laden is said to have Marfan Syndrome.

Emely Richardson said

at 9:43 am on Nov 5, 2009

Good use of pictures. You may have wanted to make it a little more clear which things were links to new pages becuase at first I thought that the links were just titles. I liked the links that further defined the tough words. I think it's very interesting how you put the page of famous people who have this disorder. There are people on there, like Michael Phelps, that I never would have guessed had a genetic disorder.

Cara Maher said

at 9:44 am on Nov 5, 2009

It is frightening to know this disorder is so common. One in 5,000 births is not a good statictic when a person is thinking about having children.

Cheryl Twyman said

at 9:49 am on Nov 5, 2009

It is unfortunate that a strong precaution is to not engage in athletics, especially when the disorder occurs so frequently. This means so many children never get the chance to participate in certain sports, or if they do they have a really high chance of being injured. it is also interesting to learn that so many famous people have it, and you would never have known otherwise.

Candace Boone said

at 9:49 am on Nov 5, 2009

I liked the Colobroma of the Iris page, because I have never seen anyone, even with the diseas as common as it is, that has a notch in their eyes.

Hannah Jenkins said

at 9:49 am on Nov 5, 2009

I thought the coloboma is especially interesting, but it would be nice to actually know what causes it rather than just what it looks like and where else it effects. Also, I think it is kind of cool that there is no cure, but a relatively normal life can be lead if the patient just takes it easy. It would be nice to be required to relax most of the time. :)

Emily Buis said

at 9:54 am on Nov 5, 2009

I did not realize that Marfan syndrome was so common, or that it could develope without either parent having the gene. I'd never even heard of a coloboma of the iris and I thought it was interesting that it can occur from causes other than just Marfan syndrome.

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