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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Causes Joint Hypermobility And Aortic Valve Regurgitation?

i have positive wrist and thumb sign, joint hyper mobility( mostly in my hands) can touch the floor with the palms of my hand , mitral valve prolapse with regurgitation also aortic valve regurgitation with enlarged
aorta . I'm female 5'10" tall. Knock knees, left rib protrudes a bit
Do i have a genetic connective tissue disorder?
Thu, 5 Mar 2015
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Pediatrician 's  Response
Dear user,
Thanks for you query on health care magic.
From your description it seems you genetic connective tissue disorder, that is marfan syndrome. it is a autosomal dominat disorder, that mean there high probability that it will also transfer to your children.
if your one of the parents also have similar features then your brother or sister may also suffering from this syndrome.
It can present as wide variability of clinical features and their severity, so regular follow up with clinician is required.
Hope this information will help.
Regards
Dr Deepak Vaishnav
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Note: For detailed guidance on genetic screening consult a genetics specialist
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What Causes Joint Hypermobility And Aortic Valve Regurgitation?

Dear user, Thanks for you query on health care magic. From your description it seems you genetic connective tissue disorder, that is marfan syndrome. it is a autosomal dominat disorder, that mean there high probability that it will also transfer to your children. if your one of the parents also have similar features then your brother or sister may also suffering from this syndrome. It can present as wide variability of clinical features and their severity, so regular follow up with clinician is required. Hope this information will help. Regards Dr Deepak Vaishnav