How is this disease diagnosed?

The disease can not be diagnosed just by one doctor; you may have geneticist, cardiologist, ophthalmologist, orthopedist specialist. The doctors will take x-rays, measure the arm span (many people with disease have a large arm span), and most importantly ask any family history of this disease. It is hard to diagnose this disease if none of your ancestors has ever had this disease. If their is no line of this disease in your family history, than before the doctor can make an acurate diagnosis at least three of the body systems has to be affected.