Noonan syndrome is a genetic defect that occurs in one or many of the genes at the time of fetal development. It is not a curable disorder, nor can it be reversed. It is one of the very rare diseases. (1)
What Is The Prognosis For Noonan Syndrome?
Early diagnosis and early treatment are the key factors in improving the prognosis for Noonan syndrome. Usually, most people can lead a normal life if the condition is diagnosed early and the treatment started immediately after the diagnosis (2)
However, as per the research conducted by the national center for advancing translational sciences, those affected by Noonan syndrome suffer from three times the mortality rate as compared to normal, healthy people. That said, the prognosis still varies from person to person. It can be said that the prognosis largely depends upon the signs and symptoms, characteristics presented by the affected person. Long term outlook would depend upon the existence and gravity of the heart conditions. The more prolonged and severe heart conditions, the worse is the prognosis.
With early diagnosis and proper treatment approaches, most people can attain adulthood and may lead to self-dependent lives.
Noonan syndrome is a disorder caused due to defective genes. There is no way that the defects in the genes can be altered. Also, about 50 percent of cases are inherited from parents, the remaining cases, however, are a result of a random, spontaneous mutation occurring in the gene during fetal development. This cannot be arrested as well. Hence, there is no way to prevent Noonan syndrome. If you are a known parent with a risk of passing this disorder to your children, it’s better to go for genetic counseling before you decide on pregnancy. Also, if you have already gotten pregnant, your baby can be tested for Noonan syndrome by the method of amniocentesis, which gives a good idea about how the baby will turn out to be in terms of Noonan syndrome. These methods can be used to conceive a healthy pregnancy and take it to full term. (1)
Complications Of Noonan Syndrome
Noonan syndrome can lead to various complications, almost different in different people. However, the common complications that can be seen in a person affected with this condition are given here-
Complications In Achieving Developmental Milestones- There may be some issues with the organizational and spatial skills of your child due to Noonan syndrome. These are mostly mild in many cases. However, if they are severe, your child may need special education and teaching assistants and techniques.
Complications Of The Lymphatic System- In Noonan syndrome, there may be a problem with the lymphatic system, as excess fluid may get collected inside the body. This may be a problem if fluid gets accumulated in the spaces around the lungs and heart.
Complications Like Bruising And Bleeding- There may be excessive bruising or bleeding, mostly due to clotting issues or low platelets count. This problem needs to be addressed as this may lead to many other serious complications like hemorrhage.
Complications Related To Fertility- This may occur especially in males. If the testicles do not descend or function properly, there may be issues regarding fertility. Females usually don’t face fertility issues in Noonan syndrome
Complications Like Cancer- Some cancers like leukemia or some kinds of tumors are an increased risk in people with Noonan syndrome. (1)
Noonan syndrome cannot be cured, as it is a genetic deformity. In many cases, it may increase the mortality rate by three times as compared to other normal people.
However, with proper medical intervention, early diagnosis, and prompt treatment, Noonan syndrome can be managed, and its symptoms lessened. It is possible to improve the quality of life in Noonan affected people, with the help of proper diagnosis and treatment approach.