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Nail-Patella Syndrome

What is nail-patella syndrome?

Nail-patella syndrome is a rare disorder that impacts the knees, elbows, nails, and pelvis. It is estimated that this rare disorder affects one of every 50,000 people. 

What are the symptoms of nail-patella syndrome?

This condition is variable between affected individuals; even family members with nail-patella syndrome can experience different symptoms. Possible effects include:

  • Abnormal nails
    • They may be underdeveloped, missing, pitted, ridged, or split
    • Triangular instead of crescent-shaped bases of the nail
  • Skeletal abnormalities
    • Webbed or irregular elbows
    • Irregular or absent patella that is prone to dislocation
    • Growths on the pelvis that look like horns
  • Increased risk of glaucoma 
  • Increased risk of kidney disease
    • This can lead to kidney failure

What causes nail-patella syndrome?

A mutated LMX1B gene is responsible for nail-patella syndrome, and it is inherited in an autosomal dominant pattern. This holds the instructions for the LMX1B protein, which is a transcription factor. Research has shown that it is important for embryonic development of the eyes, limbs, and kidneys. However, further research is needed to connect this genetic mutation to the symptoms of the disorder. 

How is nail-patella syndrome diagnosed?

In some cases, nail-patella syndrome is diagnosed at birth when doctors notice the characteristic symptoms. In others, diagnosis does not come until later in life. For these patients, doctors will perform a clinical evaluation, physical exam, evaluation of family and medical history, lab tests, MRIs, CT scans, and X-rays. Genetic tests can confirm a diagnosis.

What are the treatments for nail-patella syndrome?

Treatment is aimed at the specific symptoms presented in each patient, and it may require a team of specialists. 

Where can I find out more about nail-patella syndrome?


Nail-Patella Syndrome Articles