Noonan syndrome is a rare genetic disorder that affects around 1 in 2000 people. The disorder was named after American child cardiologist Dr. Jacqueline Noonan. In 1963. Dr, Noonan noticed that many of her child patients with narrow pulmonary valves also had similar facial features. She also became aware that they were all around the same short height.
The symptoms of Noonan syndrome are wide ranging. They are not all displayed by all sufferers, and they vary in severity from person to person. Symptoms include both heart defects and physical irregularities.
The facial symptoms of Noonan syndrome can include large, downward slanting eyes or drooping eyes. The eyes may also be widely spaced, and the nasal bridge may be flat. The neck may be short, and there may be extra folds of skin on both sides at the back of the neck. The ears may also appear to be set low on the head.
Almost 80% of children diagnosed with Noonan syndrome have heart defects. These defects may include a hole in the upper chambers of the heart. A hole may also be present in the lower two heart chambers. A narrowing of the pulmonary valve, through which the blood travels from the heart to the lungs, may also occur. The heart muscles may also be prone to thickening.
Testing for Noonan syndrome is non specific. The diagnosis depends on the amount of symptoms present. A doctor can also become aware of the condition if he or she hears a heart murmur caused by uneven blood flow. The blood flow irregularity will be investigated using an echocardiogram (ECG).
Certain complications may arise from Noonan syndrome. These can include poor muscle tone and hair and skin irregularities. There may also be a tendency to bruise easily. Ear infections may cause hearing problems, and there may be eyesight problems such as short-sightedness. Growth in height and weight may also be slower in a child with Noonan syndrome.
There is no specific treatment for Noonan syndrome. Any treatment will address complications that arise, usually with the heart. If there are blockages preventing proper blood flow or any other structural irregularity, then treatment can be administered. These treatments, on the whole, are usually successful.