Marfan Syndrome, the New Face of Genetics


♪♪ ♪♪ Hi, I am Dominga. I am a freshman in college studying arts administration. I am a self-proclaimed Harry Potter nerd. I
love Audrey Hepburn movies and I love to sing dance and act as much
as humanly possible. I was also born with a genetic disorder
called Marfan Syndrome. ♪♪ People with Marfan Syndrome have a change in the gene that tells our body how to make Fibrillin-1 an important component of connective tissue. Since connective tissue is found all over our body, most people with Marfan Syndrome have differences in at least three or
more body parts. Today my friends and I are going to show you how to recognize some other major features of Marfan Syndrome. That can be seen just by looking at someone. Keep in mind however that some features of Marfan Syndrome like heart problems for example can only
be detected by running special tests. ♪♪ ♪♪ One of the key characteristics of Marfan Syndrome is something called Ectopia Lentis which means that the lens of Sydney’s eye move away from the center of the pupil. This is because the connective tissue holding the lens in place is lax. If you look closely at Sydney’s eye you can see a very characteristic movement of the lens. ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ Say, it’s my birthday. My name is Alex and I’m Ezra and this
is Cassie and Penelope Hello…hello Cassie was born with a genetic syndrome called Marfan Syndrome. We wanted to show you a feature Cassie was born with. As you can see Cassie’s chect sinks inwards toward the middle, this is called Pectus Excavatum. But Penelope what is it that you and Cassie call it? Target… target. Alex: Why do you call it a target Cass? Because Penelope likes to shoot water into it. She used to laugh all the time when I put water into it. Rick: Why would you put water in there? Penelope: Because that is what made her laugh. Cassie: Can you take a picutre of it? Rick: I am doing it right now, l’m making a movie of it. ♪♪ …. Poke it… ♪♪ Many people with Marfan Syndrom have
uniquely shaped chests. As you can see my chest points out
towards the front. So that the distance between my sternum and my back is pretty long this is known
as Pectus Carinatum. ♪♪ Hi, I’m Yamil and I have Marfan Syndrome and I am in 6th grade and this my mom. When you first meet people with Marfan Syndrome one of the first thing that you might notice is that they are very tall and thin and that their legs and arms a very long. In fact
if you measure their arm span and compare it to their height their arm span is longer. This isn’t the case for people without Marfan Syndrome. To measure my arm span you need to get
the distance between the two tips of middle fingers. Now that we know my arm span we are going to compare it to my height. This comparison is called the arm span to height ratio. For most people with Marfan Syndrome that ratio is at least one point 0 five or greater. ♪♪ Another special feature of people with Marfan Syndrome is Pes Planus which means literally flat
feet. People with this feature like Cassie don’t have an arch in their feet. ♪♪ Another thing you may notice about me is
that my fingers are very long and slender compared to the size of my palm. Medical professionals would use the term Arachnodactly to describe them. Arachnodactly! …laughing… Arachnodactly is a hallmark of Marfan Syndrome that can be seen in the hands and feet. You can see here that everyone’s toes
are specially long and slender. ♪♪ To determine whether someone has a
arachnodactly there are two things you should look for. One is call the wrist sign and one is called the thumb sign. To show you the writs sign, I am going to take one hand and wrap it around the wrist of my opposite hand. As you can see the thumb and pinkie not only go all the way around my wrist but there is at least a knuckle’s worth of overlap between them. So here’s the thumb sign. When I place my thumb across my palm the entire end of my thumb from knuckle to tip lies past the edge of my palm. ♪♪ Arachnodactly. ♪♪ All three of us have Marfan Syndrome and as you can see we don’t exactly look the same. but there are two features that we all share that are highly characteristic of Marfan Syndrome. For instance our faces are usually described as long and narrow. Would you say that my face is long and narrow Dominga? Yes I would Yamil. I like this kid. ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪ ♪♪

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