Rett Syndrome

Rett syndrome is an X-linked dominant neurodevelopmental disorder primarily affecting females, caused by mutations in the MECP2 gene. Clinical features include developmental regression, loss of purposeful hand use, stereotypic movements, intellectual disability, and autonomic dysfunction. Pathophysiology involves impaired synaptic maturation and neuronal function. Diagnosis is clinical, confirmed by genetic testing. Management is symptomatic, including physiotherapy, speech therapy, seizure control, and supportive care; prognosis involves lifelong neurological disability with variable survival.