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Nail Patella Syndrome
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Nail Patella Syndrome is an uncommon genetically determined disease that involves organs of both ectodermal and mesodermal origin. It is also known as hereditary osteo-onchodysplasia.

It involves the organs of both ectodermal and mesodermal origin. It causes abnormalities of bone, joints, fingernails and kidneys. Nail Patella syndrome is usually characterized by absent or under-developed kneecap and thumb nails. It is estimated to occur in one in 50,000/- newborns.

Causes of Nail Patella Syndrome

Researchers have found a strong evidence of link between glaucoma and Nail Patella Syndrome. They examined people suffering from Nail Patella Syndrome in two families and found that more than half of them suffered from glaucoma.

As a result of these findings, people with Nail Patella Syndrome are advised to go for regular ophthalmologic exams so that the glaucoma can be diagnosed and treated as early as possible. They gene which mutates to cause Nail Patella Syndrome is located on a portion of chromosome 9 called 9Q34. Studies have provided direct evidence that the glaucoma related genetic material is located at that same chromosomal site.

Symptoms of Nail Patella Syndrome

There may loss of peripheral vision. There may be blind spots noted. There is generally the need for frequent changes in glasses. Patient feels difficulty in adjusting to a dark room.

There may be blurred vision noted. Sore and reddened eyes are the common feature. There may also be appearance of hales or rainbows around lights. Severe headaches are felt. Patient may even develop nausea and eye pain in certain cases. If a person feels any among these symptoms, then immediate contact with eye doctor should be made for complete examination.

In this disorder, no clear racial predominance is recognized. Both sexes, that is male and female, are equally affected. There is no preferential age of onset of such disorder, as individuals of any age can be affected. First of all in such disorders, knee pain or and inability to completely extend the knee joint is felt.

The patellae may be hypoplastic or absent and it may be frequently dislocated. Limitation of elbow motion or subluxation of the radius often occurs as a result of hypoplasia of the radial head. Other joints tend to be hyper flexible.

Renal involvement may result in protein Urea (NH2CONH2) and recurrent urinary tract infections. Cutaneous manifestations are nail changes that involve mainly the thumb and progressively decrease in severity in the second to fifth fingers. Patient often complains of palmoplanter hyperhidrosis. Other nail abnormalities in patients with Nail Patella Syndrome are like splitting, longitudinal ridging, koilonychias, etc.

Treatment of Nail Patella Syndrome

The treatment for Nail Patella Syndrome and glaucoma depends upon the nature of a severity of each case. As per rule, glaucoma cannot be curded but it can be controlled.

Eye drops, pills, laser procedures and surgical operations are used to prevent or slow further damage from occurring. With any type of glaucoma, periodic examinations are necessary in order to prevent vision loss. Because glaucoma can be worsened without person being aware of it, hence treatment may be needed to be changed over time

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