children s health issues
Noonan Syndrome
Introduction
Noonan syndrome is a genetic defect that causes a number of physical abnormalities, including short stature, heart defects, and an abnormal appearance. A gene is a segment of deoxyribonucleic acid ( DNA ) and contains the code for a specific protein that functions in one or more types of cells in the body. Genes contain instructions that determine how the body is supposed to look and function. (See Noonan syndrome is caused by mutations in certain genes that can be inherited from a parent who has an affected gene. It also can occur spontaneously in a child whose parents do not have an affected gene. One of several different genes may be involved. Noonan syndrome is relatively common, occurring in about 1 in 1,000 to 2,500 people. Both boys and girls can be affected. 