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Noonan Syndrome is a hereditary disease that develops due to the inheritance of defective genes from one of the patients . The kid acquires this disorderliness since birth . This disorder affects various portion of the body . Its symptoms may range from mild to severe . Its symptom include typical facial feature , stunted growth , learning disabilities , nerve defects , hearing problems , vision problem , and many more . It is diagnose by physical examination , genetic exam , blood tests , and other tryout . There is no cure for this upset . Only some of its symptom and complications can be managed with music , surgery , and others accord to the organ involved .
Coping Methods For Noonan Syndrome
Being affected by Noonan syndrome , it brings various forcible trouble to face . Both kin and patient are move by the long processes of treatment . As this disorder is incurable , the patient needs a support group to cope with it . Several support groups are useable who can help the patient to deal with this disorder . The affected role should look for the help of his doctor to find the support group . He may help the patient to feel trustworthy resources on the internet that can search for a local keep group .
Moreover , the doctor can also facilitate the patient to get proper information about the disorder , its effort symptoms , diagnosis , and treatment.(1 )
Noonan Syndrome is an autosomal dominant disease affecting children usually acquired from one of the parent . It hinders the normal growth and evolution of a person . It is present since birth . It affects various parts of the body that result in a variety of problem in the same somebody . But its symptoms may be unlike in dissimilar persons . It may be mild or severe.(2 )
Noonan syndrome is caused due to the passage of defective gene from one of the parents to the baby . If one of the parents has the faulty genes , there is a 50 % risk of the child turn out to them may acquire these genes . Apart from the genetic mutation , it has been found that random mutant in the cistron during the evolution of a child in the uterus may lead to this syndrome . However , there is no scientific grounds present today that can connect a connection between the environmental divisor and genes in Noonan syndrome.(2 )
Noonan syndrome represent its symptom by affecting dissimilar organs in the consistence . Its vulgar symptom take strange facial features , curb maturation , core defects present since birth , learning disability , ear , and eye problems . The typical facial features are represented by wide - set eye , low - Seth ears , unspecific nose with a bulblike tip , deep groove between the mouth and nose , round-shouldered dentition , wide school principal with a low-spirited hairline , and inadequate neck with surplus skin folds . The child also has congenital affectionateness disease such as pulmonic stenosis , hypertrophic cardiomyopathy , septate defect , and atypical heart rhythm .
The syndrome can be detected in the unborn nestling during pregnancy through routine ultrasound scans , desoxyribonucleic acid sample of the babe , chorionic villus sample , and amniocentesis . In the child , this syndrome is diagnosed by forcible examination , genetical examination , blood tests , and meat problems are observe byelectrocardiogramandechocardiogram . Educational tests evaluate learning disablement . optic tests are done to check blurry visual sense or squints . Auditory tests evaluatehearing going .
Noonan Syndrome is treated based on symptoms histrionics and inclemency of the disorder . nerve mar are usually managed with surgery and certain medicine . scrubby growth is chastise with growth hormone injections . Other job , such as feeding and speech problems , undescended testicles , eye problems , etc . are treated byspeech therapy , disciplinal surgery , and glasses , etc .
Conclusion
Noonan syndrome is a congenital disease that generate an impact on the normal function of various parts of the physical structure . Its warmheartedness can be mild or austere . When it affect severely , the patient requires support from the families and friends . It is apprise to join support group to blab and discuss the various aspects of the upset .
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