Nail-Patella Syndrome: Associated Health Complications Beyond Nails & Knees

Nail-Patella Syndrome (NPS / FONG disease) is an autosomal dominant disorder (LMX1B mutation) affecting multiple systems beyond the classic nail dysplasia and patellar hypoplasia.

Systemic Manifestations

System	Complications	Prevalence
Musculoskeletal	Elbow dysplasia (limited supination/pronation), hip dysplasia, scoliosis, talipes equinovarus	Common
Renal	Nephropathy (proteinuria, hematuria), ESRD ~30–50% by age 60	Major morbidity
Ocular	Open-angle glaucoma (early onset), cataracts, nystagmus, corneal abnormalities	~30–50%
Neurological	Peripheral neuropathy, learning disabilities, ADHD, migraines	Variable
GI	GERD, IBD (Crohn's/UC), constipation	Increased vs. general
Dental	Hypodontia, microdontia, enamel defects, delayed eruption	Common
Auditory	Sensorineural hearing loss (progressive)	~20%
Psychiatric	Anxiety, depression (partly reactive to chronic illness)	Elevated

Surveillance Protocol

• Annual: BP, urinalysis (protein/creatinine ratio), eGFR, eye exam (glaucoma screen)
• Periodic: Audiology, DEXA (bone density), renal ultrasound
• Baseline: Genetic counseling, family screening

Management

• Multidisciplinary: nephrology, ophthalmology, orthopedics, genetics, dentistry
• ACEi/ARB for proteinuria; IOP-lowering for glaucoma
• Joint protection, PT for mobility
• Early educational support for learning differences

NPS is a multisystem disorder — not just nails and knees. Lifelong coordinated care improves outcomes.