Smith-Magenis syndrome (SMS; OMIM #182290) is caused by haploinsufficiency of the RAI1gene and can occur either by the deletion of RAI1due to a heterozygous deletion of chromosome 17p11.2 or by the presence of a pathogenic variant in RAI1. SMS is a complex neurodevelopmental disorder characterized by characteristic dysmorphic facial features, intellectual disability, aggressive behavior, sleep disorder, and obesity. SMS is typically a sporadic syndrome, with a dominant inheritance pattern and an estimated prevalence of 1:25,000 live births.
RAI1 Smith-Magenis Syndrome