Living with Nail-patella syndrome
An inherited condition that affects the nails, knees, elbows, and hips, and sometimes the eyes and kidneys.
Understanding Nail-patella syndrome
Severity varies, even within a family. Nail differences are seen in almost everyone. Nails may be missing or underdeveloped, split, ridged, or pitted. Kneecaps may be small, oddly shaped, or missing, and they may slip out of place. Some people can't fully straighten the elbows. Horn-like growths on the pelvis (iliac horns) are common. The eyes and kidneys can also be affected, including glaucoma at an early age and kidney disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nail differences (missing, ridged, or pitted)
- Kneecap differences
- Elbow differences
- Horn-like growths on the pelvis (iliac horns)
- Kidney problems
- Back pain and joint problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in LMX1B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the LMX1B gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: fong disease; hereditary onychoostedysplasia; hereditary osteo-onychodysplasia; iliac horn syndrome; nail patella syndrome; nps
Patient organizations
- Little People of AmericaNail-patella syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Nail-patella syndrome.
Explore research for Nail-patella syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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