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Nail Patella Syndrome - Causes, Symptoms And Treatment of Nail Patella Syndrome

What is Nail Patella Syndrome ?

Nail patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Nail Patella Syndrome (also called Fong's Disease, Hereditary Onycho-Osteodysplasia ['HOOD'] is characterized by several typical abnormalities of the arms and legs as well as kidney disease and glaucoma. The hallmark features of Nail Patellasyndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease.

The incidence of nail-patella syndrome is approximately one in 50,000 births. This disorder affects males and females equally. It is found throughout the world and occurs in all ethnic groups.

What are the causes of Nail Patella Syndrome ?

  • Nail-patella syndrome has been recognized as an inherited disorder for over 100 years. It is caused by mutations in a gene known as LIM Homeobox Transcription Factor 1-Beta (LMX1B), located on the long arm of chromosome 9.
  • 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.
  • The fingernail deformities seem to vary tremendously. Some people have brittle, underdeveloped, cracked or ridged nails while others are absent entirely. They are often concave, causing them to split, flip up and catch on clothing, bedding, etc.

What are the symptoms of Nail Patella Syndrome ?

People with nail-patella syndrome may display only a few or many of the recognized signs of this disease. Symptoms vary widely from person to person. Some of the common symptoms of Nail Patella Syndrome are :-

  • The most obvious sign associated with nail-patella syndrome is absent, poorly developed, or unusual fingernails.
  • Fingernails may be small and concave with pitting, ridges, splits, and/or discoloration.
  • The knees of people with nail-patella syndrome may have a square appearance.
  • Loss of peripheral (side) vision.
  • Difficulty in adjusting to a dark room.
  • Appearance of halos or rainbows around lights.
  • Severe headaches, nausea and eye pain in rare cases.

Treatment for Nail Patella Syndrome

Treatment is usually not needed. In cases where kidney disease is involved, the kidney disease is treated by dialysis or a kidney transplant.

Specific therapies for the treatment of NPS are symptomatic and supportive. In some cases, treatment for associated bone abnormalities may include surgical replacement of knee caps with artificial devices (prosthetics) and or reconstruction of hypoplastic bones within the knee and or elbow areas. As a rule, glaucoma cannot be cured, but it can be controlled. Eye drops, pills, laser procedures, and surgical operations are used to prevent or slow further damage from occurring.


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