What causes NPS?
NPS is a rare genetic disorder, often inherited from one of your parents. In other cases, it’s a result of a spontaneous mutation in the LMX1B gene. NPS most commonly causes problems in the nails, knees, elbow, and pelvis.
What is NPS?
Nail-Patella syndrome (NPS) is a rare genetic disorder that causes abnormalities of bone, joints, fingernails, kidneys, and glaucoma. NPS is characterized by absent or under-developed kneecaps and thumbnails. It is estimated to occur in 1 in 50,000 newborns.
Is nail-patella syndrome dominant?
Nail-patella syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene.
What is meant by nail-patella syndrome?
Nail-patella syndrome causes changes in the nails, elbows, kneecaps (patellae), and hip bone. The most common symptom of the syndrome is having missing or underdeveloped fingernails and toenails.
How does nail patella syndrome affect the kidneys?
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. In about 5% of people with nail-patella syndrome, the kidney disease may progress to kidney failure.
What is the prognosis for nail patella syndrome?
Prognosis. While many people with nail-patella syndrome do not have serious medical problems, many people have medical complications, including frequent kneecap dislocations , the development of early-onset arthritis, glaucoma, or kidney problems. About 5% of people with nail-patella syndrome develop end-stage kidney…
Is there a genetic test for nail patella syndrome?
Nail-patella syndrome is diagnosed based on the signs and symptoms present (this is called a “clinical diagnosis” and means that laboratory or genetic testing is not necessary for the diagnosis).
Is the LMX1B gene new in nail patella syndrome?
In about 12% of people with nail-patella syndrome, the genetic change in the LMX1B gene was not inherited from either parent. Instead, the genetic change was new in the person diagnosed with nail-patella syndrome. Genetic changes that are new in a person are called de novo.