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Noonan syndrome is a congenital and hereditary disease, although on certain occasions 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 abnormal development in many parts of the body.
Although it is not such a well-known disease, the numbers indicate that patients with Noonan syndrome reach the number of patients with Down syndrome, 1 in 1500 born in the world.
The symptoms caused by Noonan syndrome are very varied, this is due to the fact that some of the proteins responsible for growth in children become hyperactive, causing numerous genetic changes. Heart disease, short stature, scooped chest, delayed puberty, mild intellectual disability, downward sloping eyes, drooping eyelids, abnormally shaped ears, short and folds of neck, small penis, and undescended testicles.
Noonan syndrome can be detected even before the child is born by molecular genetic diagnosis. This procedure will make it possible to locate genetic mutations in the molecular markers responsible for the disease, such as the PTPN11 or SOS1 gene, with 50% and 13% competition in children ill with Noonan syndrome. But children who have not undergone that prenatal genetic test can also be diagnosed by a scan by the pediatrician in which platelets and growth hormone levels will be examined, blood clotting will be measured, they will be performed chest x-rays and audiometry will be done.
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 associated with 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 that are difficult to control.
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 Fernandez. Editor of our site
You can read more articles similar to Noonan syndrome in children, in the category of Childhood Illnesses on site.