Holt Oram Syndrome

Holt-Oram syndrome is an inherited congenital birth defect that affects approximately one out of every 100,000 live births. The disorder affects the hands, arms and heart.

The bones of the arm and hand always have a defect of some degree. It is very common to see defects in the bones of the wrist and the bones in the thumb. Sometimes the thumb is missing or not formed properly. A child with a severe case of Holt-Oram syndrome will have extremely short arms and the hands will be attached extremely close to the body.

In some cases both sides are affected, while one side is affected in other babies. Up to 75% of all affected children will experience heart defects, such as, atrial septal defect, ventricular septal defect or an arrhythmia. After the baby is delivered, a doctor will do a thorough physical examination and can diagnose Holt-Oram syndrome at that point.

There is no cure for the disorder, but treatment consists of cardiology visits and surgery to improve the function of the arms and hands.