A number of disorders need to be considered when evaluating a patient for Rett Syndrome.
Classic and variant Rett syndrome are typically due to mutations in MECP2.
Rett syndrome variants:
(1) CDKL5
(2) FOXG1
Other genetic disorders:
(1) Angelman syndrome (UBE3A)
(2) inborn error of metabolism with encephalopathy
Acquired disorders:
(1) perinatal/postnatal brain injury
(2) metabolic encephalopathy
(3) severe infection
