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:
Other genetic disorders:
(1) Angelman syndrome (UBE3A)
(2) inborn error of metabolism with encephalopathy
(1) perinatal/postnatal brain injury
(2) metabolic encephalopathy
(3) severe infection
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