A neighbor has a son, nice boy, in his 20’s, who is very very tall and very very thin. His face is long and thin. The boy looks like a skeleton and seems to be getting taller and his face getting thinner and longer. I don’t know them well enough to ask nosy questions, but I am curious, and a little worried. I know about Marfans syndrome, but could it just be the way he is? The father is quite tall, the mother quite thin. If not Marfans, could it be something else?
Are his hands long and thin also? That’s another characteristic of Marfan’s.
Learn more here: www.marfan.org
A close friend of mine, now deceased, had Marfan’s Syndrome. The aspect that struck me most strongly was her astonishing flexibility. It’s a very complex, interesting, and unfortunate condition.
The late actor Vincent Schiavelli was probably the most well-known (or recognizable) person with Marfans.
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Isn’t it suspected that Abraham Lincoln had Marfan’s?
Yep. I have heard that mentioned many times. Lincoln is even mentioned in the wikipedia page on Marfan’s syndrome.
It’s not known if he actually had it or not, but he did have many of the physical features that are typical of it. There are other diseases that produce similar physical features though.
I hope his parents are aware of Marfan’s - they are college grads and must be aware their son is a bit different.
My husband has been diagnosed with “probable Marfans.” The only reason it is not a definitive diagnosis is he has not had genetic testing to confirm it.
There are many connective tissue disorders that result in similar body types and symptoms, so being tall and lanky is not enough. My husband has many–in fact, almost all–of the exterior characteristics:
[ul]
[li]Unusually tall for his family–6’4", whereas his father is 5’10" and his mother 5’2"[/li][li] His “wingspan”–the measurement of fingertip to fingertip with his arms straight out to the side–exceeds his height[/li][li] Thin with an absolutely insane metabolism–now, at 39, he’s 180lbs, but in high school was about 150[/li][li] Long, tapering fingers (well, all bones are long); they tested this by his ability to wrap his thumb and middle finger around his wrist and then have one rest on top of each other due to overlap[/li][li] Crazy flexibility–they do one test where he bends his thumb backwards to his wrist, among other, umk, unusual abilities; this is due to the genetic defect in the connective tissue [/li][li] Extremely nearsighted vision[/li][li] Flat feet[/li][li] Narrow nasal passages and a high hard pallet–guy snores in such a way I’ve slept in ear plugs for 10 years[/li][li] A “floppy” heart valve; his mitrol valve just flaps all over the place, but not significantly enough to cause symptoms[/li][li] “Pigeon” chest–his sternum pops out. This is due to overgrowth of the rib cage common in this condition; some have their chests go in, as his father’s does[/ul][/li]
The only symtoms hubby doesn’t have are the most dangerous: a swelling aoerta, and dislocating eye lens. His heart has been checked every 5 years, but his aorta shows no sign of aneurysm.
What’s interesting is Marfans is a dominant gene, but how it manifests itself in the carriers can vary drastically. While hubby displays so many typical exterior symptoms, he may have passed the condition on to one or both of his sons, even if they don’t have similar outward signs (though our oldest is already off the chart when it comes to height for his age). You can have a person who appears completely normal on the outside, but then have the defect present in their heart and you not know it until they die from a sudden aortic dissection (I’ve wondered if that’s what happened to John Ritter).
We’ve found that Marfans is a rare condition and that we often know more than the GPs do about it. I’ve even had a pediatrician argue my husband’s diagnosis–never mind hubby was diagnosed by Marfans specialists at one of the nation’s top Marfans clinics. :rolleyes: We’re concerned our oldest may have the condition and we want to start monitoring him, but folks in the Marfans community have iunformed us oftentimes a child cannot be diagnosed until they start growing into the body type. Our oldest is long, lanky, and flat footed, and his chest appears to be growing in, so some genetic testing may be in his (and our) future.
All this to say it’s much more difficult identifying Marfans than just noting someone’s unusual body type.
Dang, missed the edit window. A few things I added/corrected:
My husband has many–in fact, almost all–of the exterior characteristics of Marfans, which are not limited to simply being long, lean, and lanky:
[ul]
[li] Narrow nasal passages and a high hard palate–I can spell, I swear[/ul][/li]
Added: While hubby’s father is not long or lean, his inward-growing rib cage–and the fact his mother died of an aortic dissection, although granted in her early 80s–make us suspect he inherited it from his paternal line.
Opps. I thought this was a typo for “Martians.” Never mind.
Although…
Bah. I’ve been wondering if any of these people live on Drury Lane.
With one big exception, almost every word you said here applied to my friend. She was diagnosed in her mid-fifties (I have no idea how this hadn’t happened earlier in her life), when she underwent heart surgery. IF I remember correctly she needed an artificial aorta and two artificial(?) valves, certainly a result, at least in part, of her having been a heavy smoker for the preceding 30+ years. She was told that she could expect to survive for less than 10 years. I watched as she and her husband learned to cope with this news and eventually came to terms with it.
She died eighteen years later, in her early seventies, having never quite kicked the smoking addiction.
Anyway- It seemed to me that one of the hardest parts of those years for her was dealing with various doctors who knew little or nothing about Marfans, and OFTEN gave her advice/prescriptions that were questionable, and in a couple of cases flat-out dangerous, for a Marfans person.
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And could we lose the insensitive unfunny jokes?
OP: Don’t be so quick to diagnose your neighbor. Your description fits my partner perfectly . . . 6’10", very thin and bony, long narrow face, long narrow hands and feet, insane metabolism, etc. But he does not have Morphan’s. In fact, at 45, he’s in perfect health.
Sadly, Ruffian, I’ve had a few doctors insist my ortho condition was misdiagnosed…after the really good docs took five years to pin it down when I was a kid, and it was re-confirmed by a true expert at Johns Hopkins a few years ago. At first glance. :rolleyes:
<nevermind>
I have Marfan.
At 6’2", I’m tall but not extraordinarily so. I’m not especially lanky or flexible. To look at me, you probably wouldn’t guess it.
About 10 years ago, a sharp-eyed doctor that I had just begun seeing noticed that my elbows “over-straighten” (i.e. can bend a couple of degrees in the wrong direction). That, coupled with a slight chest concavity that I’ve always had, led him to recommend I get tested.
The worst of it for me is that my aorta is stretched too thin. I explain it as the elastic band on your underwear. After a while it just doesn’t snap back like it used to. For most people, their aortic “elastic” lasts for a lifetime; mine is wearing out early. Elevated blood pressure could result in a dissection (bad) or rupture (very very bad), so I take blood pressure meds as a precaution, even though I’ve never had high BP. It hasn’t gotten any worse since we starting checking (once or twice per year), but if it does there are options available such as a stent or, in extreme cases, synthetic replacement. It’s a somewhat scary situation, but it’s manageable. Staying on top of it is key.
Anyway, I have a friend who looks like a classic Marfan case, much like the OP’s neighbor. When I learned about my condition, I asked him about it, and he said he was tested years before and he doesn’t have it. So, you just never can tell, I guess.
I would suspect that the kid’s doctors and/or parents have already looked into it. His medical condition isn’t really your business, but if you’re really worried, it probably won’t hurt to casually bring it up when you see them. Just don’t make a big deal of it and be prepared to back off if they tell you to MYOB.