Marfans Syndrome

Serenity · Posted: Wed Jan 23, 2008 2:48 pm Post subject: Marfans Syndrome

I was watching one of my favourite programmes Holby City last night, when a man came in and was diagnosed as having Marfan's Syndrome.

The reason this interested me, is because Martin has been tested for this. It was apparent when he was about 4 years old that he was a lot taller than any kid of his age. Not only that he has certain characteristics, associated with the Syndrome. One being very long spidery fingers. Another having a very high pallete causing crowding of the teeth. He was sent to a specialist, who after delving into family history, concluded it was more than likely genes that was causing his height etc. To be on the safe side, though, they did a test on his heart, as this Syndrome gets worse with age, and they will call him back when he is 18 to do another, to check for heart defects. Hopefully he will be cleared of all doubt then

Below are some of the problems this condition can cause, severity is different depending on each person, and I learnt that Abe Lincoln actually suffered from this.

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Marfan Syndrome is a hereditary disorder of the connective tissue affecting many organ systems, including the skeleton, lungs, eyes, causing retina detachment, heart, and blood vessels.

The syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds.

Causes

Marfan Syndrome is caused by a defect in the gene that determines the structure of fibrillin, a protein that is an important part of connective tissue. The defective gene can be inherited.

External Signs

Marfan Syndrome affects people in many different ways. While some people have only mild symptoms, others are more severely affected. In most cases, the disorder becomes more serious as the person ages.

People with Marfan syndrome are typically very tall, slender, and loose jointed. The long bones of the skeleton, arms, legs, fingers, and toes may be noticeably long in relation to the rest of the body.

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Selious5 · Posted: Wed Jan 23, 2008 5:02 pm Post subject:

Wasn't aware of this syndrome at all. Very interesting indeed. There are a lot of tall teenagers today and children who are tall for their age so I presume that there must be other factors involved to have this symptom diagnosed.
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Hannah

redhead · Posted: Sat Jan 26, 2008 6:31 pm Post subject:

Never heard of this before , does it cause any pain , as it's heredietry had you known anyone in the family who had suffered ?

Serenity · Posted: Sun Jan 27, 2008 7:03 am Post subject:

Well hopefully when Mart has his heart checked at 18, they will tell me he 100% doesn't have this, no one in the family has been diagnosed either. Pauls side are all tall so Mart was never gonna be a shorty.

If he did have it, the heart problems would be the biggest issue Julie, and the retinas detaching from the eyes could cause bad probs too. Apart from those symptons I don't think the oters would cause much pain, so fingers crossed he'll get the all clear in a couple of years time

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Amber · Member User Online: Joined: 28 Sep 2007 Posts: 381

not heard of this either, interesting. why wiat till he is 18

Serenity · Posted: Sun Jan 27, 2008 2:58 pm Post subject:

Not sure???? I thinks its because thats when most kids stop growing and become an adult...so it's a good benchmark to test them at.
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Memph1s · Posted: Sun Jan 27, 2008 3:39 pm Post subject:

like you said debs, paul is tall (understatement, hes HUGE!) and its not like you're short either. as for the fingers thing, i do understand that paul has large fingers too? so it seems highly likely its a genes thing to me.

hope all is confirmed for you when he is 18 though!
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redhead · Posted: Sun Jan 27, 2008 7:47 pm Post subject:

Why did they come up with the syndrome in the first place if there's no family history of the syndrome sure everything will be ok like memph1 said it's the genes

that reminds me when I was a kid doc's said we weren't the height for our age and wanted to put us on pills to help us grow only prob we could have ended up 6" daft as the whole families not much more than 5"6 thankfully mum wouldn't have any of it I think doc's get a bit carried away with there diagnosis , mind you 5" would be good

Serenity · Posted: Mon Jan 28, 2008 8:48 am Post subject:

Good job you didn't have any treatment Julie, I think they class it as child abuse nowadays lol! The things they used to do were quite barbaric and had more serious consequences than being small etc.!! We are all what we are, small big tall short, all perfect in our own way

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Amber · Member User Online: Joined: 28 Sep 2007 Posts: 381

when my son was at infant school he had the health check done, he was only tiny and they wanted him to have surgery--the one where they break your legs .attach like a metal frame and you screw the bone apart so much per day which would then force bones to grow.
Me and hubby refused though they kept on & on,we could not put our son through that. They estimated he would be ony 5ft, well that tiny boy is now a strapping 5FT 9 are we glad we didn't agree to surgery.

let nature take it's course.