Genetic disease that prevents the normal development of an individual

Genetic disease that prevents the normal development of an individual

Noonan syndrome is a rare genetic disorder. The disease is characterized by low height, heart abnormalities, the neck is wide, and the chest has a particular particular shape. Basically, the disease prevents the normal development of different parts of the body.

Specialists say an individual may be affected by Noonan syndrome in various ways. This condition is manifested by unusual facial features, tiny stature, heart defects, other physical problems and some developmental delays.

The disease has approximately the same prevalence as Down syndrome. Those affected will undergo morphological changes but also developmental delays and congenital heart disease.

Noonan syndrome is caused by a genetic mutation and occurs when a child inherits a copy of a gene affected by one of the parents. Careful! There are cases where gene mutation can be spontaneous in the absence of a family history.

Among the most feared symptoms of this disease is the presence of congenital heart disease. More specifically, the presence of pulmonary stenosis or hypertrophic cardiomyopathy. These patients also have problems with blood clotting and are still bruised. They are also at risk of having leukemia or having myeloproliferative problems.

What are the causes of the disease?

Noonan Syndrome is a genetic disorder, and experts say the main cause is the presence of mutations in chromosome 12. However, eight genes are involved in the development of this disease.

Children who have a parent with Noonan syndrome have a 50% chance of developing this condition. There are cases that occur in the absence of genetic inheritance.

What are the main symptoms and signs of the disease:

  • There are changes in the face. For example, the forehead is tall, the eyes distant and face down and outward. The neck is short and has an excess of skin.
  • The sternum is protruding to the top and hollowed to the bottom.
  • Can diagnose heart abnormalities
  • An intellectual retardation will occur, speech may be impaired.
  • Eye problems are often present. The patient may have strabismus, nystagmus or other problems.
  • Bleeding or bruising may occur.
  • They have a poor immune system, they are very often swollen.

Unfortunately, today there is no cure to cure the disease. But there are treatments to relieve symptoms and prevent complications. Basically, they can increase the quality of life. The patient should be periodically evaluated by a medical team. Cardiac disease screening should be performed for clotting problems. An entire medical team must evaluate and supervise such patients.

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