How Common Is Noonan Syndrome Or Is It A Rare Problem?

Noonan syndrome is a genetic problem, which has an incidence of one in total 1000 infants i.e. live births to op to one in total 2,500 live births. Short stature, congenital heart problems, distinctive facial features, learning disabilities, and bleeding disorders are a few of the major problems of the syndrome. The problem has a variable presentation and a patient of Noonan syndrome may not necessarily possess each of the disease’s features.(1)

Noonan syndrome often takes place because of genetic mutations, which may take place in two or more than two different genes. Defects or mutations in such genes may result in the production of consistently active proteins. As the genes play a significant role in the formation of multiple tissues in the entire body, the constant proteins’ activation disruptions the regular process of cell division and cell growth.(2)

How Common Is Noonan Syndrome Or Is It A Rare Problem?

Noonan Syndrome Is Common Or Rare Depends On The Affected Population

Noonan syndrome seems to affect more numbers of males as compared to females and hence, it affects about a minimum of one in 1,000 people to one in 2,500 people. However, if you have a look at other reports, you will find that the disorder has affected more than one in total 1,000 infants/newborn babies belonging to the general population. As Noonan syndrome is a highly variable one, doctors may misdiagnose or underdiagnosed the problem. Also, doctors often face difficulty to identify the true frequency associated with this type of disorder in people.(3)

Problem Is Common Or Rare As Per The Extent Of Genetic Mutations

Along with the total population suffering from Noonan syndrome, we have to analyze the extent of genetic mutations or abnormalities to determine whether the problem is a common or rare one. Accordingly, the faulty gene related to Noonan syndrome maybe-

An entirely new genetic mutation, which takes place randomly in infants and kids without any type of genetic predisposition.

Approximately 50 percent of patients suffering from Noonan syndrome have either one or both affected parents. Moreover, the parent/parents responsible to carry the genetic abnormality may or may not possess any obvious feature related to the disorder or syndrome.

A parent with the condition of Noonan syndrome is the biggest risk factor related to the development of the same problem. The risk related to the passing of the defective gene to the womb’s baby increases by about 50 percent for each of the pregnancies.(4)

Problem Is Common Or Rare As Per Its Outlook

You will find a huge variation in terms of severity of the signs and symptoms, which present in people suffering from Noonan syndrome. Because of this, the problem’s long-term outlook i.e. prognosis and its life expectancy vary largely among the affected patients. studies mainly have revealed that the long-term outcome depends primarily on the severity associated with congenital heart or valve defects.

Death occurs in affected people because of the presence of complicated disease in the left ventricular area. Studies also indicated that people suffering from Noonan syndrome have 3-fold high mortality or death rate as compared to the rate of other people. Also, a few of the affected individuals experience ongoing health issues because of lymphatic vessel dysplasia, congenital heart problems, blood disorders, urinary tract malformations, and related health problems.(5)

Conclusion

Based on different aspects related to genetic mutations, the population affected by the syndrome and overall outlook, we may conclude the Noonan syndrome is a common problem and not a rare one. Also, one can only manage the condition and may not cure the condition completely.

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