What is nail patella

Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps patellae are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward cubitus valgus or have abnormal webbing.

Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis iliac horns. These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray.

Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes glaucoma at an early age. Some people develop kidney disease, which can progress to kidney failure.

Mutations in the LMX1B gene cause nail-patella syndrome. People with NPS should also be monitored for kidney problems. Your doctor may recommend yearly urine tests to monitor the health of your kidneys. If problems develop, medication and dialysis may help manage and treat kidney issues. Pregnant women that have NPS carry a risk of developing preeclampsia, and rarely this can develop postpartum.

Preeclampsia is a serious condition that can lead to seizures and sometimes death. Preeclampsia causes increased blood pressure and can be diagnosed through blood and urine testing to assess end organ function. Blood pressure monitoring is a regular part of prenatal care, but be sure to let your doctor know if you have NPS so they can be aware of your increased risk for this condition.

NPS carries the risk of glaucoma. Glaucoma can be diagnosed through an eye exam that checks the pressure around your eye. If you have NPS, schedule regular eye exams. If you do develop glaucoma, medicated eye drops can be used to reduce pressure. You may also need to wear special corrective eye glasses.

In some cases, surgery may be needed. Overall, a multidisciplinary approach to NPS is important for the treatment of symptoms and complications. NPS is a rare genetic disorder, often inherited from one of your parents. NPS most commonly causes problems in the nails, knees, elbow, and pelvis. It can also affect a variety of other body systems including the kidney, nervous system, and gastrointestinal organs. Moroi, M. Stein, M. Updated visitor guidelines.

What Is Nail-Patella Syndrome? Other Names:. Summary Summary. Symptoms Symptoms. The symptoms of nail-patella syndrome most commonly affect the way the nails, kneecaps patellae , elbows, and hip bone form. Almost all people with nail-patella syndrome have nails that are missing, underdeveloped, discolored, split, or ridged. The fingernails are more likely to be affected than the toenails.

The thumbnails tend to be the most severely affected. This can cause problems such as frequent kneecap dislocation or early-onset arthritis. One kneecap may be affected more than the other. Most people with the syndrome also have problems with one or both of their elbows because different parts of the elbow did not develop correctly. Some people are not able to fully extend their elbows or may have a hard time turning rotating the lower part of the arm when their arm is straight.

The elbow may dislocate easily. Iliac horns are small pointy growths of bone bony projections that are not normally found on people's hip bones. Although these changes do not cause any health problems, iliac horns, if present, can be used to diagnose nail-patella syndrome. There may be nerve neurological problems affecting the hands and feet, such as reduced sensitivity to pain and temperature, numbness, tingling, or burning sensations.

The hands and feet may be unusually cold, even in warm weather. Dental problems may include weak, crumbling teeth and thin dental enamel. The most common feature of kidney disease is having high levels of protein in the urine proteinuria. High blood pressure hypertension is also common in people with kidney disease. This concept is called variable expressivity.

Showing of 60 View All. Abnormal fingernails. Abnormality of the fingernails. Spoon-shaped nails. Outward turned elbows. Formation of new noncancerous bone on top of existing bone. Underdeveloped toenails. Joints move beyond expected range of motion. Stiff joint. Stiff joints. Dislocated kneecap. Grooved nails. Nail ridging. Thickening of the lateral border of the shoulder blade. Degenerative joint disease. High urine protein levels. Protein in urine. Clouding of the lens of the eye.

Cloudy lens. Hearing defect. Blood in urine. Renal failure. Renal failure in adulthood. Inflammation of blood vessel.

Decreased elbow extension. Elbow limited extension. Limitation of elbow extension. Limited extension at elbows. Limited forearm extension.