Nail-Patella Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Nail-Patella Syndrome?
A medical geneticist, a doctor who diagnoses inherited conditions, often helps manage nail-patella syndrome. It is a rare genetic disorder that affects the nails, knees, elbows and pelvis. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is nail-patella syndrome?
Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood.
NPS is thought to affect about 1 in 50,000 people. It affects males and females equally.
The signs can differ a lot, even among members of the same family.
Symptoms
Nail changes are seen in almost all people with NPS. The nails may be absent or underdeveloped, discolored, split, ridged, or pitted. The thumbnails are usually the most severely affected.
In most people, one or both kneecaps may be abnormally small and misshaped. In other people, one or both kneecaps may be absent. A kneecap that slips out of place (dislocates) is common.
Some people cannot fully straighten their arms.
Many people with NPS have bony growths on the pelvis called iliac horns.
Other parts of the body may also be affected, particularly the eyes and kidneys.
- Eyes: people with NPS are at risk of developing glaucoma, increased pressure within the eyes, at an early age.
- Glaucoma may cause no symptoms at first. As eye pressure rises, some people develop mild headaches, blurred vision, or halos around certain lights.
- Kidneys: about 30 to 50 percent of people with NPS may have problems with how the kidneys work.
- The first sign of kidney involvement is usually protein in the urine (proteinuria), with or without blood in the urine.
Kidney failure may occur in up to 5 percent of people with NPS.
Causes and who gets it
Changes (mutations) in the LMX1B gene cause nail-patella syndrome.
NPS is inherited in an autosomal dominant pattern. This means one altered copy of the gene in each cell is enough to cause the disorder.
In most cases, an affected person inherits the change from one affected parent. Other cases may result from new mutations in the LMX1B gene, in people with no family history. A person with NPS has a 50 percent chance of passing it on to each child.
How doctors diagnose it
Doctors may suspect NPS at birth or in early childhood. They look for signs such as nail changes and small or absent kneecaps. In others, NPS may not be suspected until later in life.
A doctor can confirm NPS with an exam, patient and family history, imaging, and lab tests.
X-rays, CT scans or MRI can show the bone changes linked to NPS. Genetic testing for changes in the LMX1B gene is available to confirm the diagnosis.
Treatment
Treatment is directed toward the specific symptoms each person has. It may need a team of specialists. The team can include bone doctors (orthopedists), kidney doctors (nephrologists) and eye doctors.
- Bones and joints: treatment may include surgery to stabilize the kneecaps or replace them with artificial ones (prosthetics).
- Scoliosis may be treated with exercises, physical therapy, braces, casts, or corrective surgery.
- The glaucoma seen in NPS is open-angle glaucoma. In it, the flow of fluid out of the eye slowly becomes blocked. Treatment may include eye drops, medicines taken by mouth, or surgery. Glaucoma is treated the same way in people with and without NPS.
- People with kidney disease, especially nephrotic syndrome, should see a kidney doctor (nephrologist).
At least once a year, doctors should check bones and joints, measure blood pressure, and test the urine. Glaucoma may cause no symptoms, so all people with NPS should have yearly glaucoma screening.
Genetic counseling is recommended for people with NPS and their families.
Pregnant women with NPS may have a higher risk of preeclampsia. Frequent urine tests and blood pressure checks are recommended during pregnancy.
Follow your doctor's instructions about every medicine.
When to see a doctor
Early detection of glaucoma is important. Prompt treatment can lower eye pressure and prevent vision loss. Tell your doctor if you notice headaches, blurred vision, or halos around lights.
Small amounts of blood in the urine or high blood pressure can be early signs of kidney trouble. Kidney failure can cause life-threatening complications.
Call 911 or go to the emergency room if you have severe difficulty breathing, chest pain lasting two minutes or more, fainting, or a sudden change in vision.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can follow your overall health at regular visits and help coordinate the specialists on your care team.
Common questions
Is nail-patella syndrome inherited?
Yes, nail-patella syndrome is inherited. A person with NPS has a 50 percent chance of passing it on to each child.
Does nail-patella syndrome affect the kidneys?
Yes, it can. About 30 to 50 percent of people with NPS may have kidney function problems. Kidney failure may occur in up to 5 percent of people with NPS.
Does nail-patella syndrome affect the eyes?
Yes, it can. People with NPS are at risk of developing glaucoma at an early age. Without treatment, high eye pressure can slowly cause vision loss and may lead to blindness.
Sources
- MedlinePlus Genetics - Nail-patella syndrome
- NORD - Nail Patella Syndrome
- GeneReviews (NCBI Bookshelf) - Nail-Patella Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
