Fragile X Syndrome

Fragile X syndrome is an X-linked neurodevelopmental disorder caused by CGG trinucleotide repeat expansion in the FMR1 gene, leading to deficient FMRP protein. Clinical features include intellectual disability, autism spectrum behaviors, hyperactivity, and characteristic facial features. Pathophysiology involves dysregulated synaptic plasticity and neuronal development. Diagnosis relies on genetic testing for FMR1 mutation. Management is supportive, including behavioral interventions, educational support, and pharmacotherapy for associated psychiatric or behavioral symptoms; prognosis depends on severity and quality of support.