Nail-Patella Syndrome

A rare condition called nail-patella syndrome affects about 1 in 50,000 people, but that number is still significant enough that symptoms and causes of this disease need to be shared. The condition is fairly easy to diagnose as those who have nail-patella syndrome often have missing or undeveloped fingernails and toenails. You may also have nail-patella syndrome if you exhibit the following symptoms:

  • Discoloured nails
  • Underdeveloped, small, or missing kneecaps and elbows
  • Pain or discomfort in the knee or elbow area
  • Bony structures on hip bones

Nail-patella syndrome is caused by a genetic mutation and often can be diagnosed in utero through ultrasound, but it may not be diagnosed until later on. With infants, doctors will look for missing kneecaps after the stage that they are meant to be developed, as well as a check for the bony growths on their hips. This can be done through x-ray and other bone-imaging procedures.

Unfortunately, there is no cure for nail-patella syndrome, but the symptoms are managed so that patients can have a decent quality of life. Thing such as Tylenol and ibuprofen can be used for pain in the joints, and for more severe cases, braces and splints can also be applied.