Nail-Patella Syndrome

📋Overview

Nail-Patella Syndrome, also referred to as hereditary onycho-osteodysplasia, is a rare genetic disorder typically involving mutations in the LMX1B gene. This condition primarily impacts the development of the nails, kneecaps, elbows, and pelvic bones.

Beyond musculoskeletal features, the disorder can involve other body systems, including potential clinical observations related to kidney function. The severity and specific combination of symptoms often vary among affected individuals.