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Noonan syndrome is an autosomal dominant disease that appears in the shaver since giving birth . It impede the standard development physical process in the various percentage of the body . Its manifestations are not the same in every stirred nestling . Its clinical sign include typical facial features , shortsighted stature , heart defects , hearing ailments , eye problems , get word disability , and many more . It appears due to genetical genetic mutation acquired from one of the parents . It may also modernise due to spontaneous mutation without a fellowship account . It is detected by familial screening during pregnancy and also in a child through blood tests . Its management depends on the symptom and ramification present in the patient role .
What Leads To Noonan Syndrome?
Noonan Syndrome is a innate disease steer by a wrong factor inherit from one of the parents . It is an autosomal prevailing disease stimulate due to genetic mutation . However , there is no scientific proof available until today that can build its causes to be connect with diet or exposure to the radiation or other environmental factors.(1 )
In cases of inheritance of faulty cistron link with this syndrome , the parent with the faulty factor may not demonstrate the characteristic features of the syndrome . If one of the parent is carrying the defective or incorrect gene , then each baby born may have a 50 % prospect of developing Noonan syndrome.(2 )
In a few slip , Noonan syndrome develop due to unwritten sport in the genes not at all inherited from any of the parents . Such mutations occur randomly without any familial sensitivity . In such slip , it is estimated that the chance of having another child with this syndrome is trifling ( 1%).(2 )
There are eight known different genes that are connect to the Noonan Syndrome . The common cistron among them are-
In nigh one in every five cases , specific genes can not be detected . However , there is no fussy influence on the symptom representation by any specific genes as all symptoms are similar irrespective of being cause by different genes . Only the mutated PTPN11 gene is known to cause pneumonic stenosis , and RAF1 gene causes cardiomyopathy in many cases.(1 )
Can Noonan Syndrome Be Cured?
Since Noonan Syndrome is due to a genetical mutation , its burden on the body can be mild or severe . It can affect both males and female . It can not be bring around completely , but there are intervention ways to control some of its complications.(3)Its symptoms and knottiness are different in different patient with varying levels of severity . So , its treatment procedures are also selected accord to planetary house of its manifestation and complications.(4 )
The likely treatments of Noonan syndrome include-
Conclusion
Noonan syndrome appears when there is a transmitted mutation in autosomes during the developmental stage of a child . It is usually inherited from one of the parent who carry the bad factor . It can also develop if there is a ad-lib mutation in the cistron without any family account . There is no cure for this disorderliness known till today .
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