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Noonan’s syndrome is a group of disorders present in a child since birth. It is a genetic disorder that usually runs in the family. It has several unique features and is associated with various congenital anomalies. Noonan syndrome is a hereditary condition that hinders proper growth in several body regions.
The symptoms of Noonan syndrome can manifest in several ways, like unusual facial features, small height, heart disorders, various physical issues, and developmental disabilities.
Associated Anatomy: Head, skin, lungs, heart
Although the exact cause of Noonan syndrome is unknown, it was associated with a particular mutation in one or more specific genes (PTPN11, SOS1, RAF1, RIT1, etc.). These mutations or genetic changes can happen due to two primary reasons:
Noonan syndrome can cause a wide range of symptoms depending on the individual. The severity of symptoms depends on the responsible gene, ranging from mild to severe. The following signs and symptoms are based on the affected body structures seen in patients with this disorder.
There is no cure for Noonan syndrome at the moment. However, The goal of treatment and management is to relieve some of the problems that come with it. If your kid has been diagnosed with Noonan syndrome, they may get the following treatment:
The initial Noonan syndrome diagnosis is made with the help of your medical history, signs, symptoms, and physical examination. Family history is also essential, which helps understand the risk of genetic predisposition. Once the initial diagnosis is established, your doctor may advise additional molecular genetic tests to confirm the diagnosis. The sooner the Noonan syndrome is detected, the sooner treatment and preventative methods may be initiated, resulting in better patient outcomes.
There is no way to prevent getting Noonan syndrome. Noonan syndrome is caused by genetic mutations inherited from parents or developing spontaneously.
A Noonan syndrome is also known as Male Turner Syndrome, Noonan-Ehmke syndrome, or Ullrich-Noonan syndrome.
NS affects roughly 1 in 1000 persons, and about 1 in 2,000 people have a more severe version of the disease. Males appear to be more susceptible than females.
Patients suffering from Noonan's syndrome may present a broad range of prognoses. It may range from prenatal death to normal life with many symptoms or difficulties. Fortunately, despite developmental delays, most individuals will eventually be able to function properly as adults. Most persons with Noonan syndrome live healthy lives after receiving therapy. According to the findings, a diagnosis of hypertrophic cardiomyopathy before the age of two is linked to the greatest risk of cardiac mortality. Early diagnosis and treatment are critical for treating symptoms and avoiding complications.
When left untreated, Noonan syndrome may lead to mental difficulties and communication and behavioral challenges. Cancers such as leukemia are another complication commonly seen in persons with Noonan syndrome in the later stages of life. Other complications that can be seen in addition to these are:
If you are facing any similar signs or symptoms please contact the BLK-Max team to schedule an appointment at : +91-11-30403040
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