###### 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/