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Have nail patella syndrome, lack thumb nails, painful neck, degenerative disc disease. Will my children get it?

I have nail patella syndrome. No doctor I have ever been to know's this. I lack thumb nails and two of my children as well. I will be providing my doctor with all the info I have found on it. So she can learn. I did not know this until my daughter researched and found out. But I am greatly concerned two years ago we where told she has scoliosis of the spine when she turned 17. But we realized that we all have are own issues. I have not had a good night sleep in two years. The circulation cuts of in my arms and hands. My neck is always in pain it sounds crunchy and cracky. My doctor did note that one shoulder is lower than the other but she thought it was due to a compacted disc in the lower back. I have degenerative disk disease and spinal stenosis. But Im thinking maybe its this cervical rib. The more I research the more I realize. I have to children with this and two siblings. My other two do not. But can they be carriers? And would their children possibly get it. I know the ones that do have it indeed can.
Asked On : Sun, 14 Apr 2013
Answers:  1 Views:  63
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Pediatrician 's  Response

Thank you for your query.

I can understand your concern and appreciate the research done by you. Unfortunately genetics is such a vast and complex subject that everyone cannot keep abreast with the knowledge that has accumulated over the years. With the advent of internet and search engines things are becoming easier for the doctors to think about the various syndromes associated with genetic diseases.

Coming to your query regarding being carriers I suggest that you get a genetic mapping done. It shall then be possible to say whether the issue is dominant or recessive and what are the various possibilities.

I hope I have answered your query to your satisfaction.

Wishing you all the best.


Rajiv K Khandelwal
Answered: Tue, 2 Jul 2013
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