Nail patella syndrome

Nail-patella syndrome (NPS) is an autosomal dominant disorder reported in 1/50000 individuals [1]. It has been mapped to the long arm of chromosome 9 (9q34) with mutations in LMX1B gene. Diagnosis is usually based on clinical findings. Cardinal anomalies of NPS are dysplasia of the nails, hypoplasia or absence of the patellae, presence of iliac horns and elbow abnormalities. Additionally some patients develop glomerulopathy and primary open angle glaucoma (POAG) along with other anomalies. Progression to renal failure occurs in about 10% of NPS patients requiring either dialysis or kidney transplantation.