Nail-patella syndrome is a rare hereditary disorder that results in abnormalities of the kidneys, bones, joints, toenails, and fingernails. Nail-patella syndrome is caused by a mutation of a gene that plays an important role in the development of limbs and kidneys.
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, discolored, split, ridged or pitted.
People who have this syndrome commonly have the following features:
- missing kneecaps (patellas) or kneecaps that are small, irregularly shaped and easily dislocated (may feel unstable or painful)
- inability to fully extend their arms or turn their palms up while keeping elbows straight, and elbows may angle outwards
- bony growths (iliac horns) on the pelvic bone that may be visible on X-rays, but don’t usually cause problems
- increased pressure within the eyes (glaucoma) at an early age
- 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 kidney disease, with high blood pressure and kidney failure
Clinical Information Related to Nail Patella Syndrome and Medical Marijuana
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