What is the 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.

Can people 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 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.

Which hormone is commonly secreted abnormally in people with Smith-Magenis syndrome?

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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).

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.

Can Smith-Magenis syndrome be cured?

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 causes SMS syndrome?

Causes. Most SMS cases are caused by missing parts of chromosome 17, specifically a gene called RAI1. In other cases, the RAI1 gene is there but has mutated, or changed. It’s possible other genes play a role in the condition, but more research is needed.

Can Smith-Magenis Syndrome be prevented?

Are there any treatments for Smith-Magenis syndrome?

To our knowledge this pattern is distinctive to persons with SMS and not found elsewhere. SMS therefore offers a unique human syndrome for the study of melatonin function. At the present time, there is no effective treatment for sleep disturbances in SMS.

Are there any treatments for Smith-Magenis Syndrome?