Noonan syndrome is caused by the genetic mutation. The people who suffer from this condition also have cardiac problems and their face looks different. About 30 percent of them also has mental retardation. There are different manifestations of this syndrome. The symptoms sometimes can be mild and sometimes, unfortunately, very severe. Both men and women are affected by Noonan syndrome. The effective treatment is not yet discovered, but some complications can be controlled.
Noonan syndrome causes anomalies in heart functioning. In 65 percent of sufferers, heart anomalies are present. The most usual ones are pulmonary valve stenosis, hypertrophic cardiomyopathy, atrial septal defect, and ventricular septal defect. Facial abnormalities can be different and they are changing during child’s growth. Usually they affect eyelids, eyes are rounded, there is more skin on the corners of the eyes, eyes are blue, hair on the neck is set low, the neck is short and has too much skin on it, etc. Structure of muscles is also affected by this condition. First, the newborns are not progressing in weight, as they normally should, then tension and coordination in the muscles are week. There is also breastbone and spine deformation, and they usually have short body height at adult age. Prior to today’s knowledge, it was claimed that everyone suffering from Noonan syndrome has low intellectual abilities. We now know for a fact that not every sufferer has this symptom. Their IQ varies from 50 to 119, the average value is 100. It takes much longer than usual for them to learn to talk.
There are some other problems regarding this condition. There could be problems with sight, hearing problems, it takes longer for them to learn to sit and walk, their skin is sensitive so they easily get bruises. They also have problems with teeth, sex glands and sometimes fertility.
Noonan syndrome is a genetically transmitted disorder in 75 percent. When a parent is a carrier, his child can develop this disorder in 50 percent chances.
Because Noonan syndrome can not be healed, treatment is focused on some complications that might occur. If heart anomaly is severe, an operation could help. If the baby can’t be fed naturally, then we can use nasogastric tube in order to give the baby enough food. If there are problems with eyes, glasses can solve this problem. They also should be treated by growth hormone injections. For teeth problems, there are dental corrections. There are many things we can do to help kids with Noonan syndrome to live quality life.