He smith magenis syndrome It is not one of the most well-known diseases in the field of health and that is why International Smith Magenis Syndrome Day is observed every 17 November. To make this syndrome known and clarify its therapeutic needs, its diagnosis is given priority and research continues.
had smith magenis syndrome Discovered in the 80’s By Anna Smith, genetics counselor, and Ellen Magennis, professor of molecular genetics, who observed damage to chromosome 17 Of the affected people.
Since then, this syndrome has been included in the group of genetic diseases and has been investigated as such. Patients born with this health problem and their families demand greater visibility of this disease at the social level, that their living conditions be improved and that a more prompt diagnosis be made.
What is Smith Magenis Syndrome?
Smith Magenis Syndrome is a Disorder caused by 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.
People affected with this syndrome start developing symptoms within a few days of birth. Similarly, Smith Magenis syndrome can be detected in non-invasive prenatal testing.
Main characteristics This genetic disease is characterized by flattening of the occiput, inadequate development of jaw bones, prominent jaw, short stature, wide and short hands and feet, hoarse voice, scoliosis, instability while walking, constipation, thyroid disorders, kidney or urinary abnormalities. , cardiac disorders, hearing loss, rough skin or retinal detachment.
It also affects cognitive development Which can cause learning delays, sleep disturbances, language delays, problems learning to read, seizures, or self-harmful behavior.
For Treat this Smith Magenis Syndrome, doctors often recommend psychotropic medications to improve the patient’s attention, reduce hyperactivity levels, relieve sleep disorders, and stabilize behavior. Likewise, family members usually receive psychological support to deal with the situation and have enough tools to know how to act at all times.
Understanding their families and environments is essential for patients to feel supported and understood. On dates such as International Smith Magenis Syndrome Day, affected people ask for more information about the disease so that it can be accepted and made socially visible.