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Nail Patella Syndrome

Nail-patella syndrome - in short NPS - is a genetic disorder or syndrome that can be inherited in children by their parents. There are 50 % chances in a child to have Nail-patella syndrome after his/her mother pregnancy. Nail-patella syndrome is known by various names like Hereditary Onycho-Osteodysplasia (HOOD), Fong's Disease, Turner-Kieser syndrome, Iliac Horn Disease etc. Nail-patella syndrome is by birth or childhood disorder that affects various body parts like fingernails, toenails, and kneecaps or patella.

Some times it may be seen that nail-patella syndrome affects upper lip, the roof of mouth and our skeleton but its very rare.

Causes and symptoms:

Mutations in genes are main cause of having nail-patella syndrome. Nail-patella syndrome transfers in a child through autosomal dominant manner that is why only one defective gene may be reason of NPS. As we know that NPS is a genetic disorder so, symptoms may vary person to person. Few are symptoms are there that can be seen generally.

  1. Sideways bent fingers
  2. Absence or underdevelopment of fingernails
  3. Absence of the kneecaps or hypoplasia
  4. Deformed Hip joints
  5. Twisted legs or club feet
  6. Wrinkled and loose skin
  7. Loss of side vision
  8. Blind spots
  9. Need for frequent changes in glasses
  10. Blurred vision
  11. Redness in eyes
  12. Severe headaches, nausea and eye pain in rare cases
Treatment:

It is very important that what symptoms are appearing in your body due to NPS because according to that your treatment will be decide. Generally nail-patella syndrome is controllable disorder. Some precautions with eye drops, useful related drugs, pills are sufficient to treat nail-patella syndrome. Genetic counseling should be attend to persons who have the NPS.

 

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