Marfan Syndrome

[mdmom]

Hey, smart, resourceful people.....

 

I know this not a PANS or Lyme issue, but my complex DS16 (see my tag line) was just evaluated by a physical therapist and he is suspecting Marfan Syndrome. My son is 6'2" (74") with an arm span of 77". He is skinny and his trunk is in disproportion to his long skinny arms and legs. He has very long skinny fingers and thin gangly toes that look more like fingers. His joints are loose and he is hyper-flexible.

 

I am not sure who could rule this diagnosis in or out. Marfan Syndrome can involve cardiac issues, so it's probably something I should investigate further.

 

And I thought the diagnoses list was already too long...

 

Would appreciate hearing anyone's experiences.

 

Thanks.

 

 

[norcalmom]

No experience, but did hear a conversation on NPR about it a couple days ago. I would look on the Marfan group website for experienced doctors near you.(sorry they talked about the site and the foundation (?) that runs it, but I wasn't paying too much attention. The show maybe in their archives.

Is it genetic? If so that would be simple test for diagnostic confirmation.

[mdmom]

It is a mutation that causes it, but it's not always inherited. There can be a spontaneous gene mutation that causes it.

[JoyBop]

It is a serious disorder that shouldn't be overlooked. I believe you measure the arm spam of the arms from fingertip to fingertip. If that measurement is larger than the child's height then you need to be evaluated. They are usually quite long and talk kids. That was a really good pick up on the OTs part as many people, even doctors don't think of it often.