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Nail Patella Syndrome

Nail-patella syndrome is an autosomal dominant condition caracterized by 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).

The Nail Patella Syndrome is estimated to occur in newborns, during early childhood or later in life and its incidence is approximately one in 50,000 and occurs throughout the world in all ethnic groups.

In some individuals, it presents abnormally increased fluid pressure of the eyes as a result of the progressive blockage of the outflow of fluid from the front chamber of them and resulting in glaucoma. Nail Patella Syndrome is also known as NPS, Fong Disease, Onychoosteodysplasia, Turner-Kieser Syndrome, Iliac Horn Syndrome, Hereditary Onychoosteodysplasia or simply HOOD.

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.

  1. Patients with nail-patella syndrome may not be able to fully straighten their arms at the elbow.
  2. Loss of peripheral (side) vision
  3. Blind spots
  4. Need for frequent changes in glasses
  5. Difficulty in adjusting to a dark room.




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