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Marfan Syndrome - November 26th 2011, 10:53 AM

My friend was asking me about this earlier and I've never heard of it. Obviously google is a good option but the internet is so contradictory sometimes.
So I have some questions for you.

Do you or anyone you know have Marfan Syndrome?
How old were you/they when diagnosed?
What, if any, symptoms do you/they have and in what way do they affect your/their life?

I realise it sounds a bit odd but any answers would be appreciated.


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Re: Marfan Syndrome - November 26th 2011, 01:09 PM

Well it's an inherited condition (3/4 of all cases) that affects the connective tissues however there is one type that doesn't require either parent to be carriers (1/4 of all cases). It can affect the blood vessels supply the heart, skeleton or eyes. Most are diagnosed in the teens/early adulthood. It usually is mild but can cause more serious problems- especially with the type that affects the heart.

I've only met someone with this when I worked on an eye clinic and looked it up as i'd never heard of it! But this information ^ I got from the ophthalmic consultant.

Symptoms include:
being tall
being slim
having long, thin arms and legs
having loose and very flexible joints
small bottom jaw
high, arched palate (roof of the mouth)
deep-set eyes
flat feet
breastbone (sternum) that either protrudes outward or caves inward
crowded teeth
Scoliosis
Spondylolisthesis
Dural ecstasia
Short sight
glaucoma
cataract
stretch marks
problems with all valves
problem with the aorta.

Now depending on what type of Marfan's you have will depend on what symptoms you have! So depending on the symptoms it'll depend on how it affects the pts life. Most are able to continue with a normal life- but in order to help it's suggested that a healthy diet and exercises can help prevent it having a significant impact on your life.
   
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Re: Marfan Syndrome - November 26th 2011, 01:27 PM

I don't have any experience with this, but there are some reliable websites. I'm going to link 5 websites that are well trusted and reliable among the doctoral community.

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455/
http://www.marfan.org/marfan/
http://www.medicinenet.com/marfan_syndrome/article.htm
http://www.mayoclinic.com/health/mar...ndrome/DS00540
http://www.nhlbi.nih.gov/health/heal...cs/topics/mar/

The second one is a website dedicated to that disease only, which might be helpful. Most have forums and communities on there, which you may want to check out.
   
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