Smith-Magenis syndrome (SMS)

What is Smith-Magenis syndrome (SMS)?

Smith-Magenis syndrome is a genetic developmental disorder. Individuals usually display affectionate personalities but may also present with behavioral issues and repetitive behaviors. Delayed speech and language development, as well as issues with sleep are characteristic of the syndrome as well.

This rare disease affects multiple parts of the body and is characterized by distinct facial features. These unique facial features may be more subtle in infancy and childhood, but generally become more pronounced with age.

What gene changes cause Smith-Magenis syndrome (SMS)?

The syndrome is caused by a deletion of the RAI1 gene on chromosome 17. It is inherited in an autosomal dominant pattern, but in many cases is the result of a new mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Smith-Magenis syndrome (SMS)?

The main symptoms of the syndrome include mild to moderate intellectual disability, delayed speech, issues with sleep and potential behavioral issues.
Self-injury and repetitive self hugging are common symptoms unique to the syndrome, as is a behavior referred to as lick and flip- compulsive licking of the fingers, and of the flipping of the pages of books and magazines.

Facial and physical characteristics include a short stature, hoarse voice, a broad and square face, deep-set eyes, full cheeks, prominent lower jaw, downward turned mouth and a flattened middle of the face and nose bridge.

Other health conditions may include dental abnormalities, scoliosis, myopia and a reduced sensitivity to pain and temperature.

How does someone get tested for Smith-Magenis syndrome (SMS)?

The initial testing for Smith-Magenis syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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