Noonan syndrome iscaused by the genetic mutation. The people who suffer from this condition also have cardiacproblems and their face looks different. About 30 percent of them also hasmental retardation. There are different manifestations of this syndrome. The symptomssometimes can be mild and sometimes, unfortunately, very severe. Both men andwomen are affected by Noonan syndrome. The effective treatment is not yetdiscovered, but some complications can be controlled.
Noonan syndrome causesanomalies in heart functioning. In 65 percent of sufferers, heart anomalies arepresent. The most usual ones are pulmonary valve stenosis, hypertrophiccardiomyopathy, atrial septal defect, and ventricular septal defect. Facialabnormalities can be different and they are changing during child’s growth.Usually they affect eyelids, eyes are rounded, there is more skin on thecorners of the eyes, eyes are blue, hair on the neck is set low, the neck isshort and has too much skin on it, etc. Structure of muscles is alsoaffected 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 shortbody height at adult age. Prior to today’s knowledge, it was claimed thateveryone suffering from Noonan syndrome has low intellectual abilities. We nowknow for a fact that not every sufferer has this symptom. Their IQ varies from50 to 119, the average value is 100. It takes much longer than usual for themto learn to talk.
There are some otherproblems regarding this condition. There could be problems with sight, hearingproblems, it takes longer for them to learn to sit and walk, their skin issensitive so they easily get bruises. They also have problems with teeth, sexglands and sometimes fertility.
Noonan syndrome is agenetically transmitted disorder in 75 percent. When a parent is a carrier, hischild can develop this disorder in 50 percent chances.
Because Noonan syndromecan 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 fednaturally, then we can use nasogastric tube in order to give the baby enoughfood. If there are problems with eyes, glasses can solve this problem. Theyalso should be treated by growth hormone injections. For teeth problems, thereare dental corrections. There are many things we can do to help kids withNoonan syndrome to live quality life.