Noonan syndrome is an autosomal dominant disease that appears in the child since birth. It hinders the standard development process in the various parts of the body. Its manifestations are not the same in every affected child. Its clinical signs include typical facial features, short stature, heart defects, hearing ailments, eye problems, learning disabilities, and many more. It appears due to genetic mutation acquired from one of the parents. It may also develop due to spontaneous mutation without a family history. It is detected by genetic screening during pregnancy and also in a child through blood tests. Its management depends on the symptoms and complications present in the patient.
What Leads To Noonan Syndrome?
Noonan Syndrome is a congenital disease lead by a faulty gene inherited from one of the parents. It is an autosomal dominant disease caused due to genetic mutation. However, there is no scientific proof available until today that can establish its causes to be linked with diet or exposure to the radiation or other environmental factors.(1)
In cases of inheritance of faulty genes linked with this syndrome, the parent with the defective gene may not exhibit the characteristic features of the syndrome. If one of the parents is carrying the defective or incorrect gene, then each baby born may have a 50 % chance of developing Noonan syndrome.(2)
In a few cases, Noonan syndrome develops due to spontaneous mutation in the genes not at all inherited from any of the parents. Such mutations occur randomly without any genetic predisposition. In such cases, it is estimated that the chance of having another child with this syndrome is negligible (1%).(2)
There are eight known different genes that are linked to the Noonan Syndrome. The common genes among them are-
- The PTPN11 gene
- The KRAS gene
- The RAF1 gene
- The SOS1 gene
- The RIT1 gene(1)
In nearly one in every five cases, specific genes cannot be detected. However, there is no particular influence on the symptoms representation by any specific genes as all symptoms are similar irrespective of being caused by different genes. Only the mutated PTPN11 gene is known to cause pulmonary stenosis, and RAF1 gene causes cardiomyopathy in many cases.(1)
Can Noonan Syndrome Be Cured?
Since Noonan Syndrome is caused by a genetic mutation, its effects on the body can be mild or severe. It can affect both males and females. It cannot be cured completely, but there are treatment ways to control some of its complications.(3) Its symptoms and complications are different in different patients with varying levels of severity. So, its treatment procedures are also selected according to signs of its manifestation and complications.(4)
The potential treatments of Noonan syndrome include-
- Heart problems are treated either by surgery, medicines or by both.
- Growth hormone therapy is selected to rectify the height and weight issues of the patient.
- Learning issues are corrected either by infant stimulation programs, physical therapy, speech therapy, or educational interventions.
- Surgery is performed to move the undescended testicles to the right position.
- Excessive bleeding and brushing are treated with medicines. Most of the time, aspirin or related products are given to avoid such situations.
- Eye issues are corrected by glasses, contact lenses, and others. Regular vision examinations are recommended for such patients.
- Ear problems require regular hearing checkups, and hearing aids can help in managing such issues.(4)
Noonan syndrome appears when there is a genetic mutation in autosomes during the developmental stage of a child. It is usually inherited from one of the parents who carry the defective gene. It can also develop if there is a spontaneous mutation in the genes without any family history. There is no cure for this disorder known till today.
- Is Noonan Syndrome Recessive Or Dominant?
- Is Noonan Syndrome A Serious Condition & Can It Be Reversed?
- What Is The Prognosis For Noonan Syndrome?
- What To Eat & Avoid When You Have Noonan Syndrome?
- Can You Die From The Noonan Syndrome?
- Can Amniocentesis Detect Noonan Syndrome & Does Microarray Test For It?
- Life Expectancy Of Someone With Noonan Syndrome