Discussions By Condition: I cannot get a diagnosis.

Not Marfan Syndrome - Then What is Wrong?

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: r2whizkidz
  • February 16, 2010
  • 07:02 PM

My teenage daughter has all the sign & symptoms of Marfan Syndrome... However, when she had the Genetic Testing done, the test came back saying she does not have the gene; so Marfans is ruled out... Does anyone know of anything that mimics Maran Syndrome?

She has the following symptoms:

6" Tall & very slender build
Very long skinny arms, legs, fingers and toes
A breastbone that is slightly caved inward
A high arched palate
Heart murmurs
Extremely nearsightedness (almost legally blind now)
Sever Scoliosis
Flat footed
Extremely Flexible with all her joints

Any Help is Appreciated

Thanks!!

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3 Replies:

  • Have you got her tested for Ehlers-Danlos syndrome...I have this and was once wrongly diagnosed with Marfans synrome!!
    peeza79 7 Replies
    • February 17, 2010
    • 02:34 PM
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  • Have you got her tested for Ehlers-Danlos syndrome...I have this and was once wrongly diagnosed with Marfans synrome!!I have not had her tested for that... I will research it & ask her doctor about this Ehlers-Danlos syndrome. Thank You.
    r2whizkidz 1 Replies
    • February 17, 2010
    • 02:51 PM
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  • I have not had her tested for that... I will research it & ask her doctor about this Ehlers-Danlos syndrome. Thank You.At 18 my son, too, had a tentative Marfan Syndrome diagnosis and I brought him to the Marfan Syndrome Center at Stanford University School of Medicine. And what we learned was that he did not display internal indications of Marfan's but that he did likely have Ehlers-Danlos Syndrome.But do beware! In the build-up of fear regarding Marfan's, we experienced a palpable sense of relief -- as if Ehlers Danlos was a benign version of Marfan's. Only later did we come to understand that there are perils to ED that are not dissimilar, including the prospects of aortic failure, or splitting. Good luck!
    Anonymous 42789 Replies
    • February 19, 2010
    • 00:17 AM
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