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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Could Nail Patella Syndrome Be Genetic?

I have nail-patella syndrome and how could I find out if it was carried from my mother or father to me. I had a sister who is deceased and a brother is deceased and 1 brother living. Both parents are deceased. I have 4 children and 2 of my sons inherited from me. I have 1 son and 1 daughter who have no evidence of the disease but could they carry the gene?
Thank you,
Joyce T.


Tue, 25 Feb 2014
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Psychiatrist 's  Response
Hi,
Thanks for writing in.

The diagnosis of nail-patella syndrome is based on clinical findings. LMX1B is the only gene in which mutation is known to cause it. Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.
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Note: For detailed guidance on genetic screening consult a genetics specialist
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Could Nail Patella Syndrome Be Genetic?

Hi, Thanks for writing in. The diagnosis of nail-patella syndrome is based on clinical findings. LMX1B is the only gene in which mutation is known to cause it. Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.