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What Are The First Symptoms Of Noonan Syndrome & How Do You Test For It?

Noonan syndrome is a congenital disease which is characterized by distinctive facial features, congenital disabilities in the heart, kidney, skeleton, and many more. It appears from birth due to the genetic mutation of autosomes inherited from the parents. Its symptoms include unusual facial features, short stature, heart defects, and other health problems. It equally affects male and female babies of any race. It is screened out in prenatal tests during pregnancy, such as routine ultrasound scans, chorionic villus sampling, and amniocentesis. It is detected in babies through physical examination, genetic tests, electrocardiogram, blood tests, eye tests, hearing tests, etc.

What Are The First Symptoms Of Noonan Syndrome?

Noonan Syndrome is an autosomal-dominant inherited disorder that may cause problems in many parts of the body.(3) Its symptoms are different in different individuals, and it can create the appearance of various signs in the same person.(2) The first symptoms of Noonan Syndrome are-

Facial Features- mutation in the defective genes may lead to the appearance of distinctive features in the face such as wide eyes with drooping eyes, low-set ears, and depressed nose with a bulbous tip, droopy, and expressionless face, short neck, a prominent head, and thin skin.(1)

Feeding Problems- babies cannot suck or chew appropriately if they have Noonan Syndrome. They may tend to vomit soon after eating.(2)

Heart – congenital heart defects develop in babies, and some heart problems can appear in later life. The irregular heart rhythm may appear with or without structural defects in the majority of patients with this disorder. (1) Pulmonary valve stenosis, hypertrophic cardiomyopathy, and septal defects are some of the congenital diseases that develop in most children with Noonan syndrome.(2)

Growth Issues- the babies with this syndrome has slow growth as compared to their age, poor weight gain due to eating difficulties and insufficient growth hormone, and short stature.(1) Puberty is delayed in some persons with Noonan Syndrome, and in some cases, it never happens.(2)

Musculoskeletal Issues- babies show unusually shaped chest, wide-set nipples, short neck, and deformities of the spine.

Learning Disabilities- hearing and vision defects may develop in babies. There is a constant risk of the development of learning disabilities in babies.(1)

How Do You Test For Noonan Syndrome?

Pregnancy- the presence of this syndrome can be detected in unborn babies during pregnancy by routine ultrasound scans, & DNA samples of the baby through chronic villus sampling or amniocentesis in suspected cases or cases there is polyhydramnios. If defective genes are detected in the baby, then genetic counseling can help the expecting couple to have the right options.

In A Child- Noonan syndrome is suspected in patients by his physical signs observed by the physician, such as distinctive facial features such as wipe eyes, low-set ears, drooping eyes, and others mentioned above. After a physical examination, blood samples are sent to the genetic specialist for genetic testing. The only negative blood test would rule out this syndrome.(2)

Other tests that can confirm the diagnosis are-

ECG- helps to study the electrical activity of the heart

Echocardiogram- it gives the images of the structures of the heart like ultrasound.

Eye Tests- it reveals eye problems like blurred vision or squints.

Blood Tests- it detects blood clots.

Hearing Test- it assesses hearing loss.

An educational assessment.(2)


Noonan syndrome has different symptoms of representation in different patients. It shows characteristic features in the face discussed above, feeding problems, learning disabilities, stunted growth, and heart defects as the first symptoms in the patient. It is detected in pregnant ladies during prenatal screening and genetic testing, blood tests, and other tests mentioned above in children with suspected symptoms


Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:December 13, 2019

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