Rett Syndrome, Congenital Variant, also known as FOXG1 syndrome, is a severe neurodevelopmental condition characterized by brain abnormalities and impaired development. These abnormalities include microcephaly, corpus callosum hypoplasia, delayed myelination, simplified gyral pattern, reduced white matter volume and pachygyria. This results in severe mental retardation, developmental regression, hypotonia, apraxia, seizures, jerky limb movements, spasticity, dyskinesia, chorea, athetosis and dystonia. Patients also exhibit limited social skills, with lack of speech development and poor eye contact. FOXG1 syndrome has an early onset, affecting infants in the first few months of life. The disorder was initially believed to be a subset of Rett syndrome, but is now recognized as a distinct condition. Also, FOXG1 syndrome affects both men and women, while Rett syndrome is found almost exclusively in females. Around 100 cases of the disorder have been reported so far.
Diagnosis is done based on clinical features, brain imaging studies and genetic testing. While there is currently no cure for the disorder, patients may benefit greatly from physical, speech, vision and occupational therapy, nutritional support, orthopedic aids and pharmaceutical agents such as anticonvulsants.