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The Noonan syndrome is a rare disease of genetic origin characterize by a particular aspect of facial lineament , innate heart defects , and short stature . Sometimes there is an rational disability ( meek ) as well as certify with a delay in language acquisition.(1 )
Noonan syndrome is a congenital genetic disorderliness that happen in men and women ( no sexuality druthers ) . Earlier this name was used when people talked about the manly configuration ofTurner syndrome , but now it is fuck that they are two very different genic abnormalcy . The most vulgar aftermath of this syndrome are ticker misshapenness , small size , learning problems , thorax indentation , poor blood curdling , cryptorchidism , and facial malformation . The syndrome is describe after Dr. Jackie Noonan.(2 )
This syndrome leave from a disruption of the intracellular signaling pathway RAS / MAPK and consequently a interruption of the cells of the trunk and the process of growth of new blood vessels ( angiogenesis ) . In 40 to 50 % of cases , Noonan syndrome is due to a sport of the cistron call PTPN11 located on chromosome 12 . This cistron allows the manufacture of protein tyrosine phosphatase SHP-2 , which is present in expectant amount in the human dead body . It toy a use in the ordinance of information change between cells and intervenes in many functions of the dead body .
How Dangerous Is Noonan Syndrome?
Manifestation and severity of Noonan syndrome are highly varied . But in most individuals , the disease forecast can be effectively manage and the patient can expect a normal living anticipation . The disease can become dangerous in some individuals with cardiovascular complication and the development of malignant tumour or leukemia.(4 )
Common cardiac defects admit :
mutual facial abnormality admit :
About 1 in 1000 to 1 in 2500 child are born with this syndrome . It is one of the most common genetical syndromes in which a cardiac malformation is a lineament . Individuals with Down syndrome also have a higher endangerment of developing this disorder . It is also honest that the severity of the symptom can be extremely varied in multitude with Noonan syndrome . Because of this , it is possible that the syndrome remains undetected for foresightful and being discovered only after years by specialized physicians.(4 )
Is Noonan Syndrome Contagious?
It is a patrimonial disorder feign by a cistron mutant . However , the non - hereditary onslaught of the disease can also be seen ( though less abundant ) in less than 1 % of the youngster ( whole world-wide population ) . Children whose parents have the disease are at a 50 % chance of take the disease in their lifetime . However , the disease is not due to an transmission and thus can not be contagious ( can not be transferred from one patient to another other than from parent to offspring ) .
Noonan syndrome is not unwashed . Someone is suffer with this consideration in most cases and sometimes develop it after birth through hereditary mutation of specific genes . So , there is a people of disorders that doctors have to focus on , such as meat disease , pulmonary artery abnormality , and deformities in the face.(3 )
The characteristic manifestations of Noonan syndrome are ( facial features , marrow problems , small size , etc . ) Theoretical makes it easy to diagnose . In practice , it is sometimes very hard to avow the diagnosis as the manifestations are variable and subtle for the non - specialist . Confirmation is possible in almost 50 % of character by a unsubdivided pedigree test . It makes it possible to carry out a genetic test spotlight the mutation of the PTPN11 cistron or the K - RAS cistron . Nevertheless , in almost half of the cases , please diagnosis can not be confirmed comatoseness and remains distinctly clinical . It is hope that progress in Genetics will in the dear future to confirm the diagnosing in the majority of grammatical case . It must be accentuate that the genetic diagnosing of Noonan syndrome is very complex .
Noonan Syndrome Treatment
Each guinea pig is treat otherwise . A distortion of inborn middle disease can be surgically corrected . The scrotum can be surgically update . Sometimes growth hormone are dictate to address dull growth , scant height or abnormalities in growth . Learning disability can be oblige in special education . Due to the diversity of symptom and the varying severity of the disease among dissimilar individuals , there is no definite method acting of treatment.(5 )
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