Fragile X Syndrome (FXS) is a genetic disorder impacting brain development, causing intellectual disability and behavioral difficulties. The underlying cause is a mutation within the Fragile X Mental Retardation 1 (FMR1) gene.
This genetic alteration results in a diminished or absent production of the Fragile X Mental Retardation Protein (FMRP), a crucial element for proper brain development.
FXS occurs across all races, ethnic groups, and genders, making it a condition of global interest. It is often easy to recognize people with FXS due to their large ears, elongated faces, and large head size.