Home > Encyclopedia of Children's Health > Nail-Patella Syndrome

Definition

Nail-patella syndrome is a genetic disease of the connective tissue that produces defects in the fingernails, bone joints, and kidneys.

Description

Patients who have nail-patella syndrome may show a variety of physical defects. The most common features of this syndrome are missing or poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease.

Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed shoulder blades (scapulae), sideways bent fingers (clinodactyly),