Typical features

The main signs and symptoms of nail patella syndrome are listed below.

Someonewith the condition may not have all these symptoms andsome symptoms maybe more severe than others.

Some of theproblems will be obvious from birth, but others may not become apparent until later on.

Nail abnormalities

Nearly all people with nail patella syndrome will have abnormal or missing nails, which is usually apparent at birth.

The base of each nail is often triangular, rather than a curved crescent shape, and the nails themselves may be underdeveloped, discoloured, split, ridged or pitted.

Thumbnails are the most severely affected, and the nails are less severely affected from the index finger towards the little finger. Toenails are generally less affected than fingernails.

Other features

Other areas of the body that can be affected include the bones and joints, kidneys and eyes.

Common features include:

  • knees missing kneecaps (patellas) or kneecaps that are small, irregularly shaped and easily dislocated (may feel unstable or painful)
  • arms and elbows not able to fully extend the arms or turn the palms up while keeping elbows straight, andelbows may angle outwards
  • pelvis bony growths (iliac horns) on the pelvic bone may be visible on X-ray , but don't usually cause problems
  • eyes increased pressure within the eyes (glaucoma) at an early age
  • kidneys there may be protein in the urine, an early sign of kidney problems, and this can be accompanied by blood in the urine ; in some cases, this can progress to kidneydisease ,with high blood pressure and kidney failure
  • nerves numbness and a tingling or burning sensation in the hands and feet
  • circulation poor blood circulation in the hands and feet, causing them to feel cold, even in warm weather
  • digestive system about one in three people have constipation or irritable bowel syndrome (IBS)
  • body size difficulty putting on weight, particularly muscle, despite eating and exercising well,with little muscle mass in the upper arms and upper legs
  • thin bones (osteoporosis) notably in the hips
  • hairline the hairline may behigh, particularly at the temples

It has also been suggested that people with nail patella syndrome may be more likely to have attention deficit hyperactivity disorder (ADHD) or depression , although more research is needed to confirm this.

Content supplied by the NHS Website

Medically Reviewed by a doctor on 21 Dec 2018