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How To Diagnose Noonan Syndrome & What Is The Best Medicine For It?

Noonan syndrome is an autosomal dominant disorder that appears when the faulty genes are transferred from one of the parents to the unborn child. The disease is present since birth. It can also happen due to random mutations in the genes during conception without an actual inheritance from the parents. It affects many organs at a time. Its symptoms may be mild or severe. Its symptoms involve heart defects, unusual facial features, undescended testes, learning disabilities, vision problems, auditory problems, etc. there is no cure for this disorder.

How To Diagnose Noonan Syndrome?

Noonan Syndrome is a congenital disease lead by a faulty gene inherited from one of the parents. It is suspected when a child represents some characteristic features of the condition. These features involve unusual facial features, stunted growth, mild learning disability, undescended testicles, and lymphedema.(1)

If these features are present, then they may have other causes, which can be clarified by detailed tests suggested further. If your physician suspects Noonan Syndrome, then he may refer the child to a genetic specialist for genetic testing.(1)

Other tests advised for further confirmation of the disorder are-

Educational Assessment – for detecting learning disabilities.

Echocardiogram– it is an ultrasound scan of the heart that finds defects in the various parts of the heart

Electrocardiogram (ECG)- This test is used to measure the electrical activity of the heart through the electrodes placed on the skin.

Blood Tests- to detect the presence of any blood clot in the body

Eye Tests- the eye tests are done to check eye problems such as blurred vision, squints.

Auditory Tests- the hearing tests help to find out hearing loss induced by a middle ear infection or damaged cells or nerves inside the ear.(1)

Few of these tests are repeated regularly to have full monitoring of the case.(1)

Diagnostic Tests During Pregnancy

Specific tests are advised during pregnancy to have a prenatal screening of pregnant women and find out this syndrome in the unborn child. It is usually recommended if there is a family history of this syndrome. The tests advised during pregnancy to detect this syndrome are:

Ultrasound Scans- routine ultrasound scans help to find out possible conditions of the baby in the womb such as pleural effusion, polyhydramnios, and other abnormalities.(1)

DNA Testing- Noonan syndrome is confirmed in the unborn child through an examination of faulty genes in the baby. It is done by tests such as chorionic villus sampling or amniocentesis.(1)

If tests are positive in the unborn baby, then genetic counseling may help the parents to opt for the right options.(1)

What Is The Best Medicine For Noonan Syndrome?

There cannot be repair for the gene alterations that have induced this syndrome; treatment options can be selected to reduce the effects of the syndrome. If the symptoms are detected earlier, and treatment is started in the early stage, then the results of the disease can be controlled more easily.(2)

The treatment of this syndrome depends on the type and severity of the disease. The best medicine of the syndrome can be selected according to the symptoms and diagnosis. It can be done with proper medication and treatment procedures in a coordinated team approach. For example- heart problems are treated with surgery and other medications; stunted growth is managed with growth hormone therapy, undescended testicles with surgery, etc.(2)


Noonan Syndrome is a genetic disease caused due to genetic mutations in the autosomes passed from one of the parents. It is diagnosed by various tests according to symptoms. These tests involve echocardiography, electrocardiogram, blood tests, and others discussed above. The best medicine for the treatment of this disorder depends on the symptom’s representation diagnosed early.


Also Read:

Sheetal DeCaria, M.D.
Sheetal DeCaria, M.D.
Written, Edited or Reviewed By: Sheetal DeCaria, M.D. This article does not provide medical advice. See disclaimer
Last Modified On:December 13, 2019

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