What is the current status of research on Smith-Magenis syndrome?
Recent findings: Cross sectional studies of patients with Smith-Magenis syndrome have found evidence for central and peripheral nervous system abnormalities, neurobehavioral disturbances, and an inverted pattern of melatonin secretion leading to circadian rhythm disturbance.
Who discovered Smith-Magenis syndrome?
Smith-Magenis syndrome was first reported in the medical literature in 1982 by Ann Smith, a genetic counselor, and colleagues. In 1986, Smith and Dr. R. Ellen Magenis identified nine patients with the disorder further delineating the syndrome.
Is there a cure for Smith-Magenis syndrome?
Smith-Magenis Syndrome (SMS) is a complex genetic condition that affects individuals of all backgrounds and genders. There is no medical cure for SMS, therefore managing symptoms becomes a priority in those diagnosed with the disorder.
How many people have Smith-Magenis syndrome in the world?
Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. However, researchers believe that many people with this condition are not diagnosed, so the true prevalence may be closer to 1 in 15,000 individuals.
Can Smith-Magenis Syndrome be prevented?
SMS is an unpredictable and randomly occurring condition that has no identifiable risk factors or causes. There is no known preventative measure that will preclude the genetic event that results in SMS.
What are the signs and symptoms of Smith-Magenis Syndrome?
The major features of Smith-Magenis syndrome include mild to moderate intellectual disability , delayed speech and motor skills, distinctive facial features, sleep disturbances, skeletal and dental abnormalities, and behavioral problems.
How long do people with Smith-Magenis syndrome live?
What is the life expectancy of individuals with SMS? As it is a relatively ‘new’ syndrome, there isn’t a detailed knowledge of the’average’ life expectancy. However it is known that there was an adult with SMS who lived until she was 88 years old, and there are several adults with SMS in their 40’s and 50’s.
Can Smith-Magenis syndrome be prevented?
What is the life expectancy of someone with Smith-Magenis syndrome?
What is the life expectancy of someone with Smith-Magenis Syndrome?
Can a person with Smith-Magenis syndrome have kids?
Most often, people with Smith-Magenis syndrome have no history of the condition in their family and go to have other children without a genetic abnormality after a child with SMS. What age does SMS usually present? As it is a genetic disorder, a baby is born with the syndrome.
What are the signs and symptoms of Smith-Magenis syndrome?