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Key Fact
Smith-Magenis syndrome is estimated to occur in around 1 in 25,000 births.

History and Prevalence


Prevalence

Smith-Magenis syndrome is a rare genetic disorder that is estimated to occur in around 1 in 25,000 births, although prevalence estimates vary up to 1 in 15,000.  In addition, there may be many people with Smith-Magenis syndrome who are not diagnosed because they are mildly affected so these figures may be an underestimate.  

 

History

The disorder was first described in 1982 by Ann Smith and Ruth Ellen MagenisAnn Smith is a genetic counsellor at the National Institute of Health. Dr Magenis was a chromosome analyst who worked in the Clinical Cytogenetics Laboratory at Oregon Health and Science University.  She passed away on 4th February 2014.

 

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