Newly diagnosed

FOXG1 and related syndromes

Historical context for the relationship among FOXG1, Rett, CDKL5, and MECP2-related conditions.

FOXG1 was once described as a congenital variant of Rett syndrome. As research progressed, FOXG1 syndrome came to be recognized as a distinct condition.

The original Foundation used “sister syndromes” to describe FOXG1 syndrome, Rett syndrome, CDKL5 deficiency disorder, and MECP2 duplication syndrome: conditions with overlapping clinical and research questions, but important genetic and individual differences.

Medical context

Terminology and diagnostic criteria evolve. A genetics or neurology specialist should interpret an individual diagnosis and explain current classifications.