Nail-Patella Syndrome: Pathogenesis, Clinical Features, and Management

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Nail-patella syndrome (NPS) is an autosomal-dominant dysmorphic disorder that occurs in an estimated 1 of every 50,000 individuals. The most common clinical findings are a hypoplastic patella, elbow dysplasia, iliac horns, and hypoplastic nails. Because renal and ophthalmologic complications are prevalent, the management of NPS is multidisciplinary. Patellar abnormalities are the primary focus of orthopaedic management, while the remaining clinical features are most commonly managed nonoperatively.

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