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Information on Nail Patella Syndrome (NPS) - Causes, Symptoms, Treatment

The Nail Patella Syndrome is estimated to occur in newborns, during early childhood or later in life. It has been recognized as a rare congenital and hereditary condition for over 100 years and inherited in an autosomal dominant manner.

The incidence of NPS is approximately one in 50,000 and occurs throughout the world in all ethnic groups. This disease is complex to diagnose because it varies greatly between each individual and may include physical defects on arms and legs, kidney disease (nephropathy) and ocular disorders in up to 30 percent of the patients.

Among the abnormalities associated with Nail Patella Syndrome (NPS) the most common are aplasia; absence of the kneecaps or hypoplasia; underdevelopment of the knee caps, as well as dysplastic nails, webbing of skin at the bend of the elbows, underdevelopment or abnormal projections of certain bones and elbow joints.

The main characteristic presents brittle or ridged nails, small nail plates or dystrophic with triangular rather than half-moon shaped lunula of thumbs or indices and absent patellae (kneecaps).

In some individuals, the Nail Patella Syndrome presents abnormally increased fluid pressure of the eyes as a result of the progressive blockage of the outflow of fluid from the front chamber of them and resulting in glaucoma. Without treatment, the gradual increase in fluid pressure may cause increased narrowing of visual fields and eventually blindness.

Although there is evidence of a correlation between NPS and glaucoma, not all the patients develop this condition despite the symptoms which include blurred vision, sore, reddened eyes, loss of peripheral vision, blind spots, difficulty in adjust the vision in dark spaces, appearance of halos or rainbows around lights and need for frequent changes in glasses in patients who need them. In rare cases, the Nail Patella Syndrome causes eye pain, severe headaches and nausea.

As multi-system genetic disorder its treatment depends upon the nature, condition and severity of each individual and is not possible to cure glaucoma but it can be controlled with pills, eye drops, laser procedures or surgical operations.

Since there is not a treatment for Nail Patella Syndrome the management of the disorder has to be focused to prevent and treat complications, especially renal failure.

Families with NPS risk factor may benefit from prenatal diagnosis of Nail Patella Syndrome or genetic counseling. Ultrasound in pregnancy is not a reliable test and the diagnosis using DNA markers is not always available. The risk of transmitting the disorder from affected parent to offspring is 50 percent regardless of the sex of the child.

Nail Patella Syndrome is also known as NPS, Fong Disease, Onychoosteodysplasia, Turner-Kieser Syndrome, Iliac Horn Syndrome, Hereditary Onychoosteodysplasia or simply HOOD. There are many non-profit groups promoting awareness of NPS, one of them is the Nail Patella Syndrome Worldwide Inc. (www.nailpatella.org) where updated medical information about this condition is available.

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