Fragile X syndrome, a not so rare disease

Although it is not well known, there are few cases of babies suffering from X fragile syndrome, a disorder that causes mental retardation caused by a genetic disorder of the X chromosome. Actually this syndrome is after Down syndrome, being the second cause for a baby to have a genetic mental disability, however, it is the First cause of inherited mental retardation.

One of the problems that exist today is the precarious diagnosis that is made, reaching only 20% of cases. The lack of more detailed studies, criteria or means to detect Fragile X Syndrome have served so that the Royal Board of Disability and 20 experts have prepared a book entitled the name of this disease. According to some specialists, it is very important to carry out an early detection to be able to perform a prompt action, although it is not a high figure, the syndrome affects 1 of every 2,500 men and 1 of every 4,000 women, as we see, it has a higher incidence in the male sex There are several signs that can alert us to the possibility that the child has this disease, language delay and hyperactivity may be factors that determine it.

Facial features appear around three years of age and these vary depending on the sex of the baby. In children, the characteristics are an elongated face, a large jaw or very large ears among others. In girls it is more difficult to detect, since the signals that we have mentioned before on a physical level do not appear although the psychic aspects do. Depending on the degree of incidence, the boy or girl may live a normal life.

There is currently no cure for Fragile X Syndrome and there are few specialists dedicated to the search for therapeutic resources and specific treatments. There are many and unknown by the population the diseases that children can suffer, for this reason it is advisable to go to the specialist periodically, problems can always be detected more quickly, although you may believe that your baby is healthy.

Video: Introduction to Fragile X Syndrome (May 2024).