Noonan syndrome

Noonan syndrome's disease overview

What is

What is Noonan syndrome?

Noonan syndrome is a genetic disorder from birth. This genetic disorder hinders normal development in the parts of the human body.

Depending on the condition and physical condition of each patient, Noonan syndrome will have different signs. Symptoms of the disease are related to heart defects, low physique or face abnormalities and other parts of the body.

Causes of Noonan syndrome's disease

The cause of Noonan syndrome is said to be a genetic mutation in many genes. These gene mutations make the protein produced continuously, thereby making the process of developing and dividing the cells to appear abnormalities.

The mutations that can occur for Noonan syndrome are:

  • Genetic mutations, inheritance from parents: This type accounts for 50% of those who are sick. When a parent suffers from Noonan syndrome or carrying genetic abnormal genes may have or have no clear signs of Noonan syndrome, the child will be able to get the disease.

    • Random mutations: Random occurs without an impact genetic factor.

    Symptoms of Noonan syndrome's disease

    Symptoms of people with Noonan syndrome are very diverse, changing with each case, may be mild, moderate or severe. Symptoms of the disease include:

    The abnormalities on the facials are typical and have high value in diagnosis such as:

  • Eyes wider than usual.
  • Drops of eyelids.
  • Slightly diagonal eyes.
  • Passionate eyes.
    • pale.
  • Big head.

    • wide forehead.

  • Short, wide nose.
  • The face is often drooping.
    • a small function. short neck.
  • There is excess skin on the neck.
  • low ears, back to the back of the head.

    • Growth and development abnormalities:

  • Low physique.

    • Low growth hormones.

  • Going through puberty a few years compared to normal.
  • No normal growth in puberty.
  • Seal of heart defects:

    • People with Noonan syndrome often have congenital heart disease.

  • may have lung stenosis
  • Enthulating myocardial disease: hypertrophic heart muscle pressure.
  • irregular heart rate.

    • Some other symptoms:

  • Unusual bleeding and bruising problems.

    • Abnormal chest.

    Hearing problems due to structural abnormalities or nerve damage.

    Mild intelligence disability.

  • affect the ability to eat, may vomit after eating.
  • Unusual emotional problems.
  • Reducing muscle strength, becoming more clumsy than people of the same age.
  • For men, there may be symptoms of testicular no down scrotum, also known as hidden testes.

    • Transmission route of Noonan syndrome's diseaseNoonan syndrome

    Noonan syndrome is an non -communicable disease.

    People at risk for Noonan syndrome's disease

    The risk factor for increasing the likelihood of Noonan syndrome is: Family history of a parent with a noonan syndrome, the child who is born at risk of this disease accounts for 50%. /p>

    Prevention of Noonan syndrome's disease

  • Because the Noonan syndrome is a genetic disorder, randomly occurs, it has not yet been found to prevent the development of the disease.
  • For families with a history of members carrying the gene of Noonan syndrome, it is necessary to be genetic advice before deciding to give birth.

    • Diagnostic measures for Noonan syndrome's disease

  • To accurately diagnose Noonan syndrome, the patient will be examined and observed by the doctor and clinically important and important signs. However, these manifestations are sometimes unclear and it is not until adulthood and postpartum to show clear symptoms.

    • Clinical can support diagnosis as a molecular genetic testing method.

    For patients with Noonan syndrome with cardiovascular abnormalities, patients need to see a cardiologist to assess the condition.

    Noonan syndrome's disease treatments

    Because the Noonan syndrome is derived from a genetic defect, there is no way to fix the deviation of the pathogen. Treatment of Noonan syndrome will target the most effect of the effect of the disease on the body parts, which will conduct symptomatic treatment and complications for patients diagnosed with the disease. The sooner the patient is treated, the complicated progress will be repelled. The treatments include:

  • Treatment of heart defects: Use medical treatment with cardiovascular medication. Patients are consulted with regular heart function assessment. If the patient has a heart valve problem, surgery may be indicated.
  • Manage patient growth problems: regular monitoring of weight and height until adolescence. In addition, the patient will apply growth hormone therapy to treat low growth hormone levels. Monitoring the nutritional status of the patient can be through blood test results.
  • Solving difficulties in learning: Applying stimulating methods, physiotherapy, language therapy, special educational intervention to help children improve their affection This situation.
  • Treatment of hearing and visual problems: Patients are consulted with eye exams for at least every two years. Eye problems are treated mainly with eyeglasses or surgery for cataracts. For hearing, hearing screening is performed in patients every year in adolescence of children. Can use hearing aids for these conditions.
  • Treatment of abnormal bleeding, bruising: Avoid using aspirin, products containing aspirin for these cases. Patients are prescribed drugs that help coagulation to limit this condition.

    • Lymphatic problems may not need treatment or take appropriate measures for different directions of this phenomenon.

  • Treatment of abnormalities in the genitals: If the testes of children are lost, that is, both testicles do not move into the appropriate position in the first months. , indicating surgery will be performed in patients.
    • In addition, other assessments as well as thoughtful care monitors are given for each different case, such as: regular dental care.

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