###### Created: 2023-06-17 18:00 ###### Areas & Topics: #medicine ###### Note Type: #permanent ###### Connected to: [[Down's Syndrome]] [[Fragile X Syndrome]] - Rett syndrome is a severe neurodevelopmental disorder. - It is an X-linked dominant condition, which is mainly caused by a mutation in the MECP2 gene - It is almost exclusively seen in females as it is typically lethal when inherited by males (as they cannot compensate with an extra X chromosome) ### Clinical Features - It is characterised by normal development for the first 17 to 18 months of life, followed by severe deterioration of development. - This regression can be continuous or more of a relapsing-remitting nature, with some improvements between in some cases. - There are many clinical manifestations but the condition is severe and highly debilitating, and there is no cure. ![[_.jpg]] ### Sources Rett Syndrome - StatPearls https://www.ncbi.nlm.nih.gov/books/NBK482252/