He Smith Magenis syndrome It is not one of the best known diseases in the field of health and that is why Every November 17, International Smith Magenis Syndrome Day is celebrated. to make this syndrome known and to make its therapeutic needs visible, its diagnosis is prioritized and research continues.
Smith Magenis syndrome was discovered in the 80s by Ana Smith, genetics counselor, and by Ellen Magenis, professor of molecular genetics, who observed damage to chromosome 17 of the affected people.
Since then, this syndrome was included in the group of genetic diseases and began to be investigated as such. Patients born with this health problem and their families demand more visibility of the disease at a social level, that their living conditions be improved and that more early diagnoses be made.
What is Smith Magenis syndrome?
Smith Magenis syndrome is a disorder caused by a loss of genetic material on chromosome 17. The estimated prevalence of this syndrome is 1 person per 15,000 or 25,000 births. It is congenital, but not hereditary and affects women and men equally.
Those affected by this syndrome begin to develop the characteristics of the disease within days of being born. Likewise, Smith Magenis syndrome can be detected in a non-invasive prenatal test.
The main features What this genetic disease offers are flattening of the back of the head, insufficient development of the jaw bones, prominent jaw, short stature, wide and short hands and feet, hoarse voice, scoliosis, instability when walking, constipation, thyroid disorders , kidney or urinary abnormalities, cardiac disorders, hearing loss, rough skin or retinal detachment.
It also affects the cognitive development causing learning delays, sleep disturbances, language delay, problems learning to read, seizures or self-injurious behaviors.
For treat this Smith Magenis syndrome, doctors often recommend psychotropic drugs to improve patient attention, reduce levels of hyperactivity, address sleep disorders, and stabilize behavior. Likewise, family members usually receive psychological support to cope with the situation and have enough tools to know how to act at all times.
Understanding patients’ families and surroundings is essential for them to feel supported and understood. On dates such as International Smith Magenis Syndrome Day, those affected ask for greater knowledge of the disease so that they are accepted and made socially visible.