Noonan syndrome in children

Noonan syndrome is a congenital and hereditary disease, although in some cases it appears spontaneously in a child without any member of the family with this syndrome, caused by a genetic disorder , specifically with the mutation of chromosome 12, which causes an abnormal development in many parts o

Noonan syndrome is a congenital and hereditary disease, although in some cases it appears spontaneously in a child without any member of the family with this syndrome, caused by a genetic disorder , specifically with the mutation of chromosome 12, which causes an abnormal development in many parts of the body.

Although not a well-known disease, the numbers indicate that patients with Noonan syndrome reach the number of patients with down syndrome, 1 in every 1500 born in the world.

Symptoms of Noonan syndrome in children

The symptoms caused by Noonan syndrome are very varied, this is because some of the proteins responsible for growth in children become hyperactive causing numerous genetic changes. Heart disease, short stature, excavated thorax, delayed puberty, mild intellectual disability, downward slanting eyes, drooping eyelids, abnormally shaped ears, short neck with folds, small penis and undescended testicles.

How to detect Noonan syndrome in children

Noonan syndrome can be detected even before the birth of the child through a molecular genetic diagnosis. This procedure will allow the localization of genetic mutations in the molecular markers responsible for the disease, such as the PTPN11 gene or SOS1, with 50% and 13% of competition in sick children with Noonan syndrome. But children who have not undergone that prenatal genetic test can also be diagnosed by a pediatrician's examination in which platelets and growth hormone levels will be examined, blood coagulation will be measured, Chest radiographs and an audiometry will be performed.

My son has Noonan syndrome, what can I do?

There is no specific treatment for the disease and each symptom will be treated independently, although growth hormone is an effective weapon against many of the problems caused by Noonan syndrome. Another solution when the child has already reached puberty is the administration of testosterone, but always under supervision, since very high levels of testosterone added to an intellectual disability can cause levels of libido hard to control.

What problems can my child have with Noonan syndrome? The side effects that the disease can cause are also varied. On the one hand there are physical problems such as the accumulation of fluids in the body tissues, infertility or structural problems in the heart. On the other hand, there are the psychological effects that Noonan syndrome can cause in children, such as social problems due to lack of self-esteem due to their physical problems.

Diego Fernández.

Editor of Guiainfantil.com