What Are The Ways To Prevent Noonan Syndrome & Does It Reoccur?

Noonan syndrome is a hereditary condition that inhibits normal development in several parts of the body. It is associated with congenital heart disease, bleeding problems, short stature, and unusual facial features and many other signs and symptoms.

Fetal loss occurs for Noonan syndrome, so disorder rate is elevated than prevalence, but no approximation of the magnitude of this inconsistency is available. Noonan syndrome seems to impinge on more men than women and is believed to influence roughly one in 1,000 to one in 2,500 individuals.

What Are The Ways To Prevent Noonan Syndrome?

There are no ways to prevent Noonan syndrome because some cases of Noonan syndrome occur spontaneously. Hereditary transformations, either genetic from parents or happening impulsively, cause Noonan syndrome and there are no proven techniques to prevent it.

Since Noonan syndrome is a hereditary condition when you experience symptoms seek immediate medical attention to discuss the benefits of genetic counseling. This is especially crucial before you plan for pregnancy.

Similarly, people of any age with Noonan syndrome have an increased risk of cancer. If the condition is detected early, there are probable chances of lowering the complications and improve the symptoms.

Also, for people with a bleeding disorder, individuals should avoid taking aspirin or other blood thinners unless advised by a physician who understands this disorder properly.(2,3)

Recurrence Risk Of Noonan Syndrome

Initial, precise analysis of Noonan syndrome is crucial because every individual needs a specific medication procedure and has a unique diagnosis and recurrence risk. In order to clearly explain this factor, a clinical and echocardiographic analysis was presented of 117 families with Noonan syndrome.

Among the 117 families around 150 cases were diagnosed with this condition. These patients were roughly around one week to 50 years of age. Most of the patients acquired the syndrome through hereditary, at least one parent was affected with Noonan disorder.

Within the seemingly erratic group of probands, there was no sign or symptom of enhanced paternal age. However, echocardiography showed that this disorder was inherited from first-degree relatives.

Besides, segregation studies were performed depending on the availability of family members. It involved the screening of the pro-bands to ascertain the origin of the variant. Segregation study disclosed a potential case of germline mosaicism in a group where the unaffected father does not transmit the variant noticed in his two affected kids.

There is a small percent of recurrence risk in the child even though both the parents showed no signs of Noonan syndrome.(4,5)

Is Noonan Syndrome A Hereditary Condition?

Noonan syndrome is inbred in relatives and extended families in an autosomal dominant model caused by a faulty gene, which is usually inherited from one of the child’s parents. In the cases of children, it is manifested at the time of birth. Nearly All kids detected with Noonan syndrome have usual intellect, but a few required little educational requirements and some have intellectual incapacity.

Although prenatal analysis of Noonan syndrome is typically not possible, in a few cases the ultrasonographic results recommended the finding in utero.(1)

Complications Of Noonan Syndrome

Most people with Noonan syndrome have some form of critical hereditary heart disease. In addition, the syndrome includes complications such as

Developmental Delays- Individuals with Noonan syndrome have facial characteristics, short stature, heart defects, and other physical problems

Bleeding And Bruising- Noonan syndrome can cause extreme bleeding and bruising owing to the thickening of blood deficiencies or having too few platelets.

Urinary Tract Infection- Complications of UTI results in an acute kidney infection. It has an increased risk of pregnant women delivering premature infants.

Higher Risk Of Cancer- People with Noonan syndrome remain at a slightly enhanced possibility of acquiring some types of cancers and blood disorders.

References:

  1. Noonan Syndrome – Symptoms and causes https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422
  2. Can Noonan syndrome be prevented? https://my.clevelandclinic.org/health/diseases/17926-noonan-syndrome/prevention
  3. Noonan Syndrome – Rare disease database https://rarediseases.org/rare-diseases/noonan-syndrome/
  4. Genetic counselling in Noonan syndrome. https://www.ncbi.nlm.nih.gov/pubmed/8465845
  5. Noonan Syndrome – GeneReviews® – NCBI Bookshelf https://www.ncbi.nlm.nih.gov/books/NBK1124/

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