Noonan Syndrome: Cardiovascular Birth Defect

As a condition resulting in cardiovascular and kidney failure, Noonan Syndrome is, in most cases, a familial condition passed through family genetic code. However, in rare cases, the condition may be a simple genetic defect at chromosome 12, without prior family history. As a condition which is normally inherited, Noonan Syndrome affects nearly one out of every 2,500 births in the United States. For parents, understanding the origin, associated symptoms and treatments, will provide for the most optimal outcome in terms of life expectancy for the Noonan Syndrome sufferer.

Noonan Syndrome, in origin, is attributed to a genetic defect in which a protein, required by the body to produce normal healthy tissue, is defective resulting in abnormal fetal development. At birth, the child will exhibit immediate symptoms of Noonan Syndrome and require neonatal intensive care. Symptoms may be both internal and external and, for many parents, can be a traumatic birthing experience.

When suffering from Noonan Syndrome, the child will often exhibit both external physical symptoms as well as internal organ complications. Physically, the Noonan Syndrome sufferer may present with an abnormally shaped head and neck. However, in rare cases, no outward physical symptoms may be present. Beyond the initial physical appearance, the Noonan Syndrome child, into early childhood will begin to exhibit symptoms of delayed development and may even be classified as mentally retarded.

As age progresses the Noonan Syndrome child will fail to enter into puberty and, internally, the heart chambers will thicken resulting in a tightening of the valves. As a result, most Noonan Syndrome children will suffer significant and lifelong cardiovascular complications involving stress and overexertion of the cardiovascular system, especially of the heart and, as a result, renal complications are quite common in children and adults suffering from Noonan Syndrome