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Noonan syndrome is a genetic disorderliness characterize by short stature , congenital heart disease , and developmental holdup . Other features of the disease admit a wide and winged neck , pigeon thorax , funnel shape dresser , and other thoracic deformities . Stationary testes , specific facial features , curdling abnormalities , lymphatic abnormalities , and abnormalities in the formation of eye and ears are also observed . Described in 1963 by therapist Jacqueline Noonan , the syndrome has an relative incidence of close to 1/2000 giving birth . It is a syndrome of genetic origin that occurs sporadically in more than 80 % of case or accord to an autosomal dominant transmission with varying expression.(1 )
The birth tallness of the affected role is usually normal , but adult meridian is lower than normal . Congenital heart disease is obtain in 50 - 80 % of patients . Pulmonary stricture with dysplasia is the most common appearing . Cardiac symptom are plant in 20 - 50 % of patients , while hypertrophic cardiomyopathy is regain in 20 - 30 % of patient role and is identified after birth or in infancy.(2 )
Other cardiovascular abnormalities include ventricular septal fault , tetralogy of Fallot , pulmonary artery ramify stenosis , and atrial septal defect . About one - third of the patients have soft mental slowdown .
Can You Die From The Noonan Syndrome?
Patients with Noonan syndrome usually have a normal lifespan . However , several factors may shorten the life expectancy of the patient compared to a normal somebody . The most mutual suit of the hampered prognosis of Noonan syndrome patients is cardiovascular disorders . Some patients may also break carcinoma in the blood including leukemia . So measured and even monitoring of the patient is necessary once the diagnosing confirms Noonan syndrome . quick diagnostic therapy addressing the issues often make the patients last a standard life with normal life expectancy.(1 )
Epidemiology Of Noonan Syndrome
Noonan syndrome incidence is 1 in 1000 to 2500 births , and there are many sporadic lawsuit , but autosomal rife heritage cases have also been report . In family account , it is often channelise through affected charwoman , presumably because the prolificacy of affected men is reduce due to keeping bollock or Hypogenitalia hypoplasia.(1 )
Noonan syndrome is diagnosed with major clinical symptoms . The most common criterion for clinical diagnosis necessitate pediatric endocrinology . Newborns with Noonan syndrome usually have a size , weight , and capitulum circumference within normal limits . diagnosing at birth is based on a combination of facial dysmorphism , a short cervix with redundant skin , cardiac abnormalities and , more seldom , lymphatic issues . There are often problems with blood circulation and extra bleeding . However , these symptoms are inconsistent and may be inconspicuous , as prove by an average age at diagnosis of 9 years . The facial dysmorphism of Noonan syndrome is quite characteristic , nevertheless , the facial features are varying in time and the dysmorphism evolve with years , making diagnosing difficult .
Chromosomal examination of the affected role is routine . test of the four cistron responsible for Noonan syndrome is done to check for variation – PTPN11 ( in 50 % of patients ) , KRAS ( less than 5 % patients ) , SOS1 ( about 13 % of affected role ) , and RAF1 ( 3 - 17 % of patients).(3 )
Clinical Management Of Noonan Syndrome
Treatment of cardiovascular abnormalities in Noonan syndrome is the same as common . Developmental disorder are accost by former education programme , personalized education , and personality direction . Excess bleeding treatment is done by direct specific coagulation agent deficiencies or platelet aggregation irregularity . The growth charge per unit is increase by increment hormone substitution therapy . Regular follow - up measure are taken for quick identification of organ deformities ( in particular cardiovascular abnormality ) . There are no major problem with the patient ’s prognosis.(3 ) ( 4 )
Genetic Counseling For Syndrome
Noonan syndrome show an autosomal inheritance , with most affected individuals being dependent to nascent mutations . About 30 - 75 % of patients have inherited the disease from the parents ( mostly from mother ) . The risk of disease transmission to offspring look on the genetic status of the parent . If either parent is involve , the jeopardy is 50 % , while the danger of children getting the disease is downcast ( < 1 % ) when parents are sportsmanlike . Prenatal diagnosis is potential if a genetic variation has been identified in any family member.(5 )
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