About Smith-Magenis Syndrome
Smith-Magenis syndrome is caused by haploinsufficiency of the RAI1 gene due to interstitial deletion of chromosome 17p11.2 or point mutation in RAI1. Characteristic features include a distinctive behavioral phenotype with self-injurious behavior, self-hugging stereotypy, inverted circadian rhythm (daytime melatonin secretion causing sleep disturbance), and intellectual disability. Facial features become more pronounced with age, and patients often have hearing loss, short stature, and brachydactyly.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Smith-Magenis Syndrome trials.
Chromosome 17p11.2 deletion size or specific RAI1 mutation type must be documented — deletion versus point mutation may affect trial eligibility
Actigraphy documenting inverted circadian rhythm (daytime sleep) and polysomnography are key baseline measures
Melatonin-targeted sleep trials require baseline sleep diary and actigraphy for at least 4 weeks before enrollment
Behavioral phenotype assessment (ABC-C, Vineland) and adaptive behavior scores are required eligibility measures
Patient Resources
Patient Organization
PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome)
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