Rett syndrome: clinical characteristics and recent genetic advances

Purpose : Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. In recent years there has been increased knowledge concerning the multidisciplinary management of individuals with Rett syndr ome. The aim of this paper is to provide an update of the clinical phenotyp e, natural history and current genetic understanding of the disorder. Results/Conclusion : Rett syndrome is thought to be the second most common cause of severe mental retardation in females after Down syndrome, it now a ppears that females with RS present with a much broader phenotype than orig inally described. Recently. mutations in the MECP2 gene encoding X-linked m ethyl-CpG-binding-protein 2 have been identified in some females with Rett syndrome.