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If anyone in your family had nail patella syndrome then your chances of getting this disorder are also more. This condition exists for more than 100 years. LMX1B that is LIM Homeobox Transcription Factor 1-Beta is the gene, mutations of which causes nail patella syndrome. This is the gene, which is located on the long arm of chromosome 9. Even if only one copy of the defective genes is present in your body, you can have this disorder. If you have this disorder then chances of each of your kids having this disorder are 50%.
That doesn't mean that if no one in your family had this condition so you will also not have. As the new mutation can happen in your genes and cause nail patella syndrome. But there re only 20% chances are there of you getting such sporadic presence of this mutation in your genes. But if anyone gets such sporadic presence of this disorder then his or her kids will also have the 50% risk of getting this disorder. There are no apparent signs and symptoms of this disorder and different patients might show different set of symptoms. Still various researches are going on this disorder to find out the real cause behind the occurrence of this condition.
The one of the most common symptom of nail patella syndrome is the absence or poor developed and unusual fingernails. About 80% people who has this disorder has some or the other fingernail abnormalities. One or many fingers can be abnormal due to the nail patella syndrome. In some patients all fingernail can be abnormal but chances of this are very rare. Thumb and the index finger's nails are mostly affected. There can be various issues with these fingernails like discolored fingernails, small and concave fingernails with ridges and splits.
Observe your fingernails carefully, if you see triangular shaped spot at the base of the fingernail near to the cuticle, then you might have nail patella syndrome. The second very important symptom of this disorder is kneecap abnormalities. The absence or poor formation of kneecaps is the result if you have nail patella syndrome. The kneecaps can also be dislocated from their original position. The knees will appear square due to the dislocated kneecaps. Tendons, bones and ligaments can also be malformed. Due to this the person having this disorder may have difficulty in walking.
Some patients with nail patella syndrome may also have eye problems. They can also have a condition called as open angle glaucoma. In this condition the front chamber of the eye gets completed blocked due to fluid. It can permanently damage the optic nerve, due to the increased pressure of the fluid on the front chamber of the eye. This could lead to blindness also. There can be other abnormalities also which can include cornea, cataracts and astigmatism. The risk of kidney disease is also more if you have nail paella syndrome, as about 30% patients suffering form this condition get kidney problems. Hence you have to get the proper treatment done on time to avoid all further complications.
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