Rett like syndrome


CDKL5 and another gene, FOXG1, both lead to developmental disorders that resemble Rett syndrome. Clinicians generally consider mutations in CDKL5 to lead to ‘atypical Rett syndrome.’ However, the new study suggests that it is a distinct disorder with its own characteristic features.


FOXG1 deletion syndrome is characterized by small head size, severe intellectual disability, complete lack of language, motor deficits that include involuntary movements and an abnormal corpus callosum, which connects the two hemispheres of the brain.


Mutations in CDKL5 gene and another gene, FOXG1


Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Rett-like syndrome symptoms.