What is nail patella syndrome?

Nail patella syndrome is considered as an uncommon hereditary condition that can trigger issues with the nails, eyes, bones and even the kidneys.

The symptoms tend to vary but those with the condition have abnormal nails along with other issues with their knees, elbows and pelvis. Nevertheless, most can lead normal lives.

Characteristics

An individual with the condition might not have all the symptoms and some might be severe in others. Some of the issues might be evident from birth but others manifest later in life.

Nail abnormalities

Almost all individuals with nail patella syndrome have abnormal or missing nails which is evident at birth.

The base of every nail is often triangular in appearance and the nails might be underdeveloped, split, discolored, pitted or ridged.

The thumbnails are significantly involved while the nails are not likely affected starting at the index finger up to the little finger.

nail patella syndrome

An individual with the condition might not have all the symptoms and some might be severe in others.

What are the other features?

Some of the usual features include the following:

  • Knees – missing kneecap or it is small, irregularly shape and readily dislocates
  • Elbows and arms – inability to fully stretch out the arms or move the palms upwards while keeping them straight while the elbows angle outwards
  • Eyes – increased pressure inside the eyes at an early age
  • Pelvis – bony protrusions on the pelvic bone are seen on the X-ray but does not typically trigger any issues
  • Nerves – tingling, numbness or burning sensation in the feet and hands
  • Kidneys – presence of protein in the urine along with blood. In some instances, this can lead to kidney disease along with high blood pressure as well as kidney failure
  • Digestive tract – constipation or irritable bowel syndrome
  • Circulation – poor circulation of blood in the feet and hands which makes them feel cold

Management of nail patella syndrome

Remember that there is no available cure for the condition, but there are treatment options available to allow proper management of the symptoms.

If the individual has knees that easily dislocate and painful, it is managed with pain medications, splinting, physiotherapy and bracing. In some circumstances, corrective surgery is suggested for issues with the bones and joints.

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