Nail-patella syndrome is a genetic condition that can potentially cause a range of physical deformities and chronic health problems. The most common features are very short finger and toenails and small or absent kneecaps. A person may also have abnormal elbows, protruding hip bones, and poor kidney functioning. Treatment depends on the severity and type of symptoms, but many patients need to take medications to regulate kidney functioning and reduce pain and inflammation in body joints. Individuals with severe deformities usually undergo surgery during late childhood to prevent chronic pain.
Doctors classify nail-patella syndrome as an autosomal dominant genetic disorder, which means that a person can inherit it if one parent carries a mutated copy of a particular gene. The condition is rare and appears to affect males and females at approximately the same rate. Many cases are obvious at birth due to the appearance of unusually-shaped knees and hip bones that stick out to the sides, known as iliac horns. Nail-patella syndrome usually affects the growth of nails as well, and nails may be small and brittle or entirely absent.
During childhood, abnormalities in the knees, hips, and elbows can cause chronic pain and a limited range of motion. High blood pressure and kidney disorders are common with nail-patella syndrome as well, and some patients develop signs of glaucoma at an early age. Infants who show signs of nail-patella syndrome undergo extensive diagnostic imaging tests and blood screenings so doctors can identify all potential complications and determine the best means of treating problems early.
Children who have joint problems are often fitted with leg braces and scheduled for regular physical therapy sessions. Physical therapy can help patients build strength and learn how to walk despite range of motion problems. Small daily doses of anti-inflammatory medication are often prescribed to help relieve stiffness and swelling. If joint problems are still severe by adolescence, surgery may be needed to strengthen or replace patella, hip, or elbow tissue.
Patients who have renal problems, high blood pressure, and glaucoma generally require additional care. Specialized enzyme-inhibiting drugs may be given orally or intravenously to relieve hypertension. If the kidneys cannot properly absorb proteins and filter waste, dialysis may be needed to replace important proteins. Kidney transplantation is considered if problems cannot be resolved with medication and dialysis. Glaucoma symptoms may require daily eye drops or surgery to relieve pressure in the eyes. Most patients who receive prompt care during infancy are able to recover from their symptoms and lead full lives.