Nasha Fitter, CEO of the FOXG1 Research Foundation and Vice President of Rare Disease at Ciitizen, gives an overview of FOXG1 syndrome and how it is diagnosed.

As Ms. Fitter explains, FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. Features vary but common symptoms include:

  • Microcephaly
  • Partial or complete agenesis of the corpus callosum, reduced folds on the surface of the brain, and/or reduced white matter 
  • Intellectual disability
  • Abnormal or involuntary movements
  • Feeding problems 
  • Sleep disturbances
  • Seizures 
  • Irritability and excessive crying
  • Limited communication and social skills

The condition can be caused by mutations within the FOXG1 gene or a deletion of genetic material from the region of the long arm of chromosome 14 where the gene is located. FOXG1 syndrome is considered an autosomal dominant condition. While it is possible for parents to be carriers, most cases result from new mutations.

As Ms. Fitter points out, FOXG1 syndrome can take a long time to diagnose. Luckily, this condition has been added to epilepsy and microcephaly panels which has led to quicker diagnoses. However, as this syndrome presents itself in diverse ways, children who do not present with seizures or microcephaly may have a harder time getting diagnosed.

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