What causes Smith-Magenis syndrome?

Smith-Magenis syndrome is usually not inherited. This condition typically results from a chromosomal deletion or an RAI1 gene mutation that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development.

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.

What is the life expectancy of a person with Smith-Magenis syndrome?

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.

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 do you test for Smith-Magenis Syndrome?

The diagnosis of Smith-Magenis Syndrome (SMS) is usually confirmed through a clinical blood test called a chromosome analysis. Diagnosis can also be made through a cytogenetic test and FISH (fluorescence in situ hybridization) or by chromosome microarray analysis (CGH).

Are there prenatal tests for Smith-Magenis syndrome?

SMS arises from a sporadic mutation that occurs on a single gene early during fetal development. Prenatal testing can detect a fetus with SMS. However, because SMS is a random and unpredictable occurrence, prenatal testing is not routinely performed to detect the condition at this time.

Are you born with Smith-Magenis Syndrome?

Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple organ systems of the body. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems.

Are there prenatal tests for Smith-Magenis Syndrome?

Is there a treatment for SMS?

At the present time, there is no effective treatment for sleep disturbances in SMS. Moreover, there are currently no controlled treatment trials underway in the U.S. with the specific goal of correcting the disturbed sleep pattern observed in this disease.