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Noonan Syndrome

Here are Noonan pictures, information including symptoms, causes, name of the defective genes and treatment.

Noonan syndrome is a genetic disease which causes several parts of the body to develop abnormally. Affected individuals share the same facial characteristics and have problems pertaining to sight, stature, speech and language. Puberty is also delayed among those who suffer from the disorder, while quite a few are mentally retarded.

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The treatment for Noonan syndrome aims to improve the quality of life of the patient. It is designed to manage the symptoms and prevent the present condition from worsening. Treatment method for this genetic disorder varies from patient to patient, depending on the symptoms manifested. It may involve taking appropriate medications to resolve medical problems, surgery, hormone therapy and stimulation programs.

About Noonan Syndrome (NS)

The syndrome was identified by Dr. Jacqueline Noonan in 1963 after having a number of patients who shared some common facial features, multiple malformations and heart defects. It was initially thought as a variety of Turner syndrome but careful observation revealed that it is distinct. Out of 833 patients who were suffering from congenital heart defects being observed, 9 of shared the features described by NS. It was later found out that the disorder affects both male and female.

Cause of Noonan Syndrome

In Noonan syndrome, the patient inherited a defective gene that causes some proteins to be continually active which disturbs normal cell division and growth. Studies revealed that the genes involved are KRAS, RAF1, SOS1 and PTPN11. For some people though, the syndrome develops as a result of random genetic mutations due to an error that occurred during fertilization or conception.

The syndrome has an autosomal inheritance pattern, which means that a person could have the disorder even if only one of his or her parents has the defective gene. Those who are affected have a 50% chance of passing the defective gene to their child and less than 1% of conceiving another child with the syndrome. The disorder has been found to affect 1 out of 1,000 – 2,500 and is equally distributed in both genders. Though it is already present at birth, the symptoms are quite mild. The disease gets more pronounced in childhood but becomes subtle once again with advanced age.

Symptoms of Noonan Syndrome

People with NS will have the following manifestations:

  • Facial appearance

Those with NS have down-slanting eyes, low-set ears and sagging eyelids.

  • Stature

NS Patients are remarkably short due to delayed bone maturity.

  • Heart defects

Majority of the sufferers have congenital heart defects, while a few suffer from other forms of heart problems such as hypertrophic cardiomyopathy or thickening of the heart muscles and valve disorders.

  • Eye  problems

Many of NS patients have eye problems like strabismus. Rapid eyeball movement, farsightedness, nearsightedness, crossed eyes and astigmatism are also common.

In addition, patients of the disorder have been found to have unusually-shaped chests, low-set nipples and webbed necks. Some suffer from development delays, but these are usually mild. Individuals with NS likewise bruise easily or bleed abnormally. While delayed puberty is common in both genders, males suffer from infertility problems due to cryptorchidism or undescended testes.

Noonan Syndrome  Complications

The condition will have a huge effect on the overall well-being of the patient if it is left undetected for long period of time.

  • Social problems

The patient will find it hard to socialize with others due to his/her unusual physical features. This results in having low self-esteem.

  • Medical problems

The threat posted by congenital heart defects as well as fluid buildup on the lungs and heart call for immediate action. The patient may also have recurring bouts of UTI due to abnormally-structured kidneys.

  • Learning and developmental problems

The severity of learning and developmental problems, which can affect the overall quality of life of the patient, differs from one person to another.

Those who are suspected to have NS should not delay consulting with a doctor so that proper medical interventional could start right away. Doing this will greatly reduce the chances of complications.

Diagnosis of Noonan Syndrome and Treatment

NS diagnosis primarily involves checking the major features of the disorder. This is quite challenging and sometimes confusing especially if the symptoms are mild. The doctor may request for genetic molecular testing to help in the diagnosis. Additional tests may be requested to check the severity of the disorder. Among these are:

  • ECG
  • Echocardiogram
  • Hearing test
  • Blood-clotting factor test
  • Platelet count

The patient’s chances of recovery largely depend on the severity of the disorder and associated medical difficulties. Early detection and medical intervention could improve one’s prognosis. On the other hand, those who develop severe complications might have shorter life spans compared to those who only have minor problems.

Noonan syndrome treatment is individualized based on the severity of the disorder and the resulting complications. Some may require growth hormone therapy to address growth delays. Surgery could be an option for those who have heart defects and undescended testicles. Medicines could be given to treat infections and special educational and stimulation can aid in addressing learning problems.

Noonan Syndrome Pictures

 

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