leir weill syndrome

[las03]

I was wonder if I should be tested for leir weill syndrome, or anything else reccomended.  I have madelungs deformity in both wrist including into the elbows. I am short statue. My fathers side are all 5ft and under. I stand about 4'11 myself. Also, are there any health related issues with leir weill syndrome or anything like it?  Thanks,  Lori

[Jordanna Joaquina, MS, CGC]

We recommend that you meet with a medical geneticist for evaluation. A medical geneticist is a doctor who specializes in genetic conditions and can review your personal and family history in addition to examining you for physical signs and symptoms that may be suggestive of a genetic condition. You can find a medical geneticist at the American College of Medical Genetics website.

[las03]

I found a genetic doctor near me at Magee Womans Hospital in Pittsburgh. I see them mid Oct. I am hoping they will be able to help me answer many questions for me. They already had me fax my x-ray reports to them in regards to my madelungs deformity along with many questions over the phone before making the appt. They must really want to be sure you need to be seen there. Thanks for you help.