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Nail-patella syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Nail-patella syndrome

Nail-patella syndrome is a genetic condition characterized by abnormalities of the nails, knees, elbows, and pelvis, with severity varying significantly even among family members.

Overview

Nail-patella syndrome affects the development of several parts of the body. Nail abnormalities are present in almost all affected individuals; nails may be absent, underdeveloped, discolored, split, ridged, or pitted. The thumbnails are typically the most severely affected, and many individuals have triangular-shaped lunulae (the base of the nail) rather than the standard crescent shape.

Symptoms

  • Nail abnormalities: Absent, underdeveloped, or discolored nails; triangular lunulae.
  • Skeletal issues: Small, irregularly shaped, or absent kneecaps (patellae); frequent patellar dislocation.
  • Elbow limitations: Inability to fully extend arms or turn palms up; elbows may be angled outward (cubitus valgus) or show abnormal webbing.
  • Pelvic features: Horn-like outgrowths of the iliac bones (iliac horns), which are often detected via x-ray.
  • Systemic involvement: Increased eye pressure (glaucoma) at an early age and potential kidney disease, which may progress to failure.

Causes & Inheritance

The condition is caused by mutations in the LMX1B gene, which provides instructions for a transcription factor protein essential for the early embryonic development of limbs, kidneys, and eyes. Nail-patella syndrome is inherited in an autosomal dominant pattern, meaning one copy of the altered gene is sufficient to cause the disorder. While many cases are inherited from an affected parent, some result from new mutations in the gene in individuals with no family history.

Frequently Asked Questions

Baseline serum creatinine, estimated glomerular filtration rate (eGFR), and urine protein/creatinine ratio should be obtained at diagnosis. After that, repeat testing every 6–12 months is recommended, or sooner if you develop hypertension, swelling, or changes in urine color. A nephrologist should be consulted if proteinuria exceeds 300 mg/day, eGFR falls below 90 mL/min/1.73 m², or if you develop unexplained hypertension.
Comprehensive dilated eye exams, including intra‑ocular pressure measurement and optic nerve imaging, should be performed at least once a year beginning in early childhood (around age 5). If intra‑ocular pressure is borderline or optic nerve changes are noted, follow‑up every 3–6 months may be needed. Prompt treatment with topical prostaglandin analogs or beta‑blockers can preserve vision.
Orthopedic surgeons can perform a realignment procedure (e.g., medial patellofemoral ligament reconstruction) or a tibial tubercle transfer to improve tracking. Post‑operative rehab usually involves 4–6 weeks of protected weight‑bearing with a hinged brace, followed by 8–12 weeks of physical therapy to restore strength and range of motion. Most patients regain stable knee function, but lifelong activity modification may still be advised.
Topical urea or keratolytic creams can soften ridges, while biotin (2.5 mg daily) may modestly improve nail thickness in some individuals. For severe dystrophy, a nail specialist can perform cosmetic nail prostheses or, in rare cases, surgical nail matrix reconstruction, though outcomes are variable. Regular moisturization and avoiding trauma are essential supportive measures.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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