This article on Epainassist.com has been look back by a aesculapian professional , as well as checked for facts , to assure the readers the best possible truth .
We follow a stern editorial policy and we have a zero - tolerance insurance regarding any grade of plagiarization . Our article are resourced from reputable on-line page . This article may contains scientific references . The numbers in the digression ( 1 , 2 , 3 ) are clickable links to peer - reviewed scientific papers .
The feedback inter-group communication “ Was this clause Helpful ” on this varlet can be used to account content that is not accurate , up - to - date or questionable in any manner .
This article does not leave aesculapian advice .
Noonan syndrome is an autosomal dominant disorder that appear when the incorrect genes are transferred from one of the parents to the unborn child . The disease is present since giving birth . It can also happen due to random mutations in the genes during conception without an literal inheritance from the parents . It affects many organs at a time . Its symptom may be mild or severe . Its symptoms demand heart defect , strange facial features , undescended testes , learning disablement , visual sensation problems , audile problems , etc . there is no cure for this disorderliness .
How To Diagnose Noonan Syndrome?
Noonan Syndrome is a inborn disease lead by a faulty cistron inherited from one of the parents . It is suspected when a youngster stage some characteristic features of the condition . These features involve unusual facial feature of speech , stunted ontogenesis , mild learning disability , undescended testicles , and lymphedema.(1 )
If these features are present , then they may have other case , which can be clarified by detailed tests suggested further . If your medico surmise Noonan Syndrome , then he may refer the nipper to a genetic specialist for genetic testing.(1 )
Other tests apprise for further confirmation of the disorder are-
Educational Assessment – for detecting learning disabilities .
Echocardiogram – it is anultrasound scanof the centre that finds defect in the various parts of the heart
Electrocardiogram(ECG)- This test is used to value the electrical activity of the heart through the electrode placed on the skin .
line Tests - to find the front of any blood coagulum in the physical structure
Eye Tests - the eye tests are done to check eye problem such as blurred vision , squint .
Auditory Tests - the audience tests facilitate to discover out see going induced by a middle ear contagion or damage cells or mettle inside the ear.(1 )
Few of these test are repeated regularly to have full monitoring of the case.(1 )
Diagnostic Tests During Pregnancy
Specific tests are advised during pregnancy to have a antepartum viewing of pregnant women and find out this syndrome in the unborn child . It is unremarkably recommended if there is a family story of this syndrome . The tests advise during maternity to detect this syndrome are :
Ultrasound Scans - routine ultrasound scans avail to find out potential stipulation of the baby in the womb such as pleural outburst , polyhydramnios , and other abnormalities.(1 )
DNA Testing - Noonan syndrome is corroborate in the unborn child through an interrogation of incorrect genes in the babe . It is done by test such as chorionic villus sampling or amniocentesis.(1 )
If tests are confirming in the unborn baby , then transmissible counseling may help the parents to choose for the proper options.(1 )
What Is The Best Medicine For Noonan Syndrome?
There can not be hangout for the gene alterations that have induce this syndrome ; handling options can be choose to reduce the effects of the syndrome . If the symptom are detected in the first place , and discussion is started in the early stage , then the effect of the disease can be controlled more easily.(2 )
The treatment of this syndrome depend on the type and rigour of the disease . The expert practice of medicine of the syndrome can be select according to the symptom and diagnosis . It can be done with proper medicament and treatment function in a coordinated team approach . For example- heart problem are deal with surgical operation and other medications ; scrubby growth is deal with growing endocrine therapy , undescended testicles with surgery , etc.(2 )
Conclusion
Noonan Syndrome is a genetic disease caused due to genetical mutations in the autosomes passed from one of the parent . It is diagnosed by various tests harmonize to symptoms . These tests involve echocardiography , EKG , blood tests , and others talk about above . The skillful medicament for the intervention of this upset depends on the symptom ’s internal representation diagnose early .
References :
Also Read :
