PDA

View Full Version : Worried I have Marfans Syndrome



Cyrus
22-03-19, 23:14
Hi everyone, I've been anxious thinking about what seems like a reasonable (although with anxiety, it's usually anything but...) possibility. I'm -
- 19 years old, male
- Very thin (5'11, 118 pounds)
- I have a slightly protruding sternum
- Can do the thumb/fingers test
- Have flat feet
- Have astigmatism in my right eye and wear contacts
- Have stretch marks on my back since around when I hit puberty
On the other hand, I'm not flexible at all, don't have any family history of this, don't have any other signs that I'm aware of, no doctor I've seen for check-ups have ever brought up the possibility, and my Dad's side is typically very thin (but healthy). Should I get this checked out or am I just being anxious/paranoid? Thanks so much.

RadioGaGa
22-03-19, 23:41
I have a mildly "weak" chin (this is the only reason I know a bit about Marfan Syndrome).

People may wonder "what is a weak chin?" but if you look at yourselves from the side ("profile view") and drop a line vertically from your lower lip:
* Males: Your chin should touch, if not slightly exceed this line
* Females: Your chin should be just behind this line
My chin is a couple of mm behind this line, hence my chin implant is 5mm projection. (Yes - literally a few millimetres changes the shape of your face! In Marfan Syndrome, the entire jaw is underdeveloped and it would need cms+ of advancement in all directions) The above information is just for anyone who is shallow/pathetic enough (like me) to care about these things :roflmao:Anyway, I'm not on a plastic surgery forum, so enough of that!

With Marfan syndrome on the other hand, the key charasteristics are a severely "weak" jaw - medically speaking this is called "retrognathia". The face will be very long, with a high palate, one eyeball or both is "sunken", under-developed cheekbones and far-spaced eyes. It's a very unique appearance.

OP, I don't mean to be rude, but if you had this triad of symptoms, a doctor AND/OR dentist would have mentioned it to you before now - not least, to your parents when you were born or very young. You do not have Marfan Syndrome.

PS: I hope this post doesn't cause offence to anyone - none was intended

Cyrus
22-03-19, 23:48
Thanks for the information - so the other signs of it I have - which still seems like a lot - are likely just normal or have other explanations? I guess I worry that it might be undiagnosed, as I've read cases of instances like that. But your post is helpful, thank you.

RadioGaGa
23-03-19, 00:10
I just checked your BMI which is 16.2. You need to see your doctor about this as that's underweight.

Not because I think it's Marfan, but it's a very low weight.

Although your GP should be able to identify Marfan Syndrome, anything related to either your mouth or the structure of your jaw/face is best answered by your dentist. They are the experts on the face/mouth. The other queries e.g. sternum/flat feet, could be answered by your GP/the appropriate referral. But I highly highly doubt oyu have Marfan Syndrome - it's genetic >70% of the time

Cyrus
23-03-19, 00:17
My doctor is aware I'm underweight - saw him recently, and I'm getting on a healthy "bulking" diet to gain. He gave no indication of any concern about something like Marfan, but I'm still anxious that because I didn't specifically bring it up at the time, it's undiagnosed. I'm freaked out by how many of the apparent signs of it I seem to have, despite having no family history.

KK77
23-03-19, 00:26
My doctor is aware I'm underweight - saw him recently, and I'm getting on a healthy "bulking" diet to gain. He gave no indication of any concern about something like Marfan, but I'm still anxious that because I didn't specifically bring it up at the time, it's undiagnosed. I'm freaked out by how many of the apparent signs of it I seem to have, despite having no family history.

You should speak to your GP about this then, as no amount of reassurance here will obviously help. We cannot diagnose Marfan's.

lofwyr
23-03-19, 05:21
I will tell you my experience. I have MANY physical characteristics of Marfan syndrome, indented sternum, and two bad heart valves and an aortic aneurysm. The thing is, I don't have it. I have been genetically tested and have one marker for a "gene of unknown significance" in relation to thoracic aneurysm disease markers. My cardiologist was sure I would be positive for it, and my genetic counselor strongly suspected it.

I also know many people with characteristics of Marfan and other connective tissue disorders, and it is certainly worth expressing these concerns to a doctor, and let them evaluate you. There are easy (though expensive if you have to pay for them) genetic tests for Marfan and a host of connective tissue disorders.

utrocket09
23-03-19, 06:28
Hi everyone, I've been anxious thinking about what seems like a reasonable (although with anxiety, it's usually anything but...) possibility. I'm -
- 19 years old, male
- Very thin (5'11, 118 pounds)
- I have a slightly protruding sternum
- Can do the thumb/fingers test
- Have flat feet
- Have astigmatism in my right eye and wear contacts
- Have stretch marks on my back since around when I hit puberty
On the other hand, I'm not flexible at all, don't have any family history of this, don't have any other signs that I'm aware of, no doctor I've seen for check-ups have ever brought up the possibility, and my Dad's side is typically very thin (but healthy). Should I get this checked out or am I just being anxious/paranoid? Thanks so much.

If you actually have it, now one here can tell you, and if you do have it, who cares?

One of the signs of it is their arms are longer stretched out than their legs. I know these are I have done the tests for Marfans and been genetically tested for it.

They also in many cases have a mishapen skull and issues with their eyes.

If a doc has not brought it up, then why worry ?

Cyrus
05-04-19, 03:25
Just an update for everyone - went in to get checked out and had a thorough physical exam for signs of Marfan. I also brought up the heart palps I'd been having. The doctor said it seems "extremely unlikely" that I have it, and it turns out a few of the things I thought I had - like flat feet - I don't actually have at all. The doc ordered an echocardiogram anyway as a precaution and for my peace of mind.

The one thing that has me slightly worried is they said they thought they might've heard a clicking while listening to my heart, which could be a sign of Mitral Valve Prolapse. However, they did say they were "not convinced" that's what it was and told me not to stress about it, and even if I did have MVP, it doesn't mean I have Marfan.

RadioGaGa
05-04-19, 08:33
What did I tell you on my first post!

Told Ya So gang will be on standby.

Cyrus
15-04-19, 17:53
Just want to update everyone - the echo came back "perfect". I don't even have Mitral Valve Prolapse.

Just goes to show how your mind can play tricks on you. I was basically CONVINCED I had this...turns out I'm totally fine.

If there's one thing I've learned from this...do not underestimate anxiety. It can really convince you of the dumbest things!

Thanks everyone for the support!

RadioGaGa
15-04-19, 19:18
what did i tell you on my first post!

Told ya so gang will be on standby.


told ya so.