Nail patella syndrome (NPS) - Causes, Symptoms and treatment of Nail patella syndrome

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.

The main characteristic presents brittle or ridged nails, small nail plates or dystrophic with triangular rather than half-moon shaped lunula of thumbs or indices and absent patellae (kneecaps).

Causes of Nail Patella Syndrome

When a parent has nail-patella syndrome each of their children has a 50% chance to inherit the disease-causing mutation. A new mutation causing nail patella syndrome can also occur, causing disease in a person with no family history. A genetic abnormality is believed to lead to altered connective tissue metabolism with widespread structural defects in collagen.

Symptoms of Nail Patella Syndrome

• 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.

• Patients with nail-patella syndrome may not be able to fully straighten their arms at the elbow.

• Difficulty in adjusting to a dark room.

Treament 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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