Hi,I am Dr. Shivaprasad C (Endocrinologist). I will be looking into your question and guiding you through the process. Please write your question below.
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.
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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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.