How to Treat Nail Patella Syndrome?

What is Nail Patella Syndrome?

Nail Patella Syndrome (NPS), also known as hereditary osteo-onychodysplasia, is a rare genetic disorder that primarily impacts the nails, knees, elbows, and pelvis. It arises from mutations in the LMX1B gene and is characterized by abnormalities such as underdeveloped or missing kneecaps, triangular lunulae (the white crescent-shaped area of the nail), and additional skeletal and renal irregularities. This uncommon genetic condition typically becomes apparent at birth or in early childhood, showcasing a distinctive clinical tetrad of fingernail dysplasia, patella hypoplasia or absence, iliac horns, and elbow deformities. Beyond these core manifestations, NPS exhibits complexity by involving the eyes, kidneys, and neurological system, creating a varied and intricate genetic disorder.

Why Does Nail Patella Syndrome Occur?

Nail Patella Syndrome is inherited in an autosomal dominant manner, meaning an affected individual has a 50% chance of passing the condition to their offspring. The LMX1B gene mutations disrupt the normal development of various tissues during fetal growth, leading to the characteristic features of NPS.