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

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