What is FoxG1 syndrome (FS)?

FoxG1 syndrome (FS), a rare neurodevelopmental disorder, is caused by mutations in the FOXG1 gene. Affected infants show a slower head growth, leading to small head size by early childhood. The condition is associated with a particular pattern of brain malformations, including a thin or underdeveloped connection between the right and left halves of the brain, reduced folds and grooves on the brain's surface, and a smaller than typical amount of brain region known as white matter. Children with the condition tend to have severe intellectual disability, abnormal or involuntary movements, such as jerky movements of the arms and legs and repeated hand motions, inability to sit or walk without assistance, feeding problems, sleep disturbances, seizures, irritability, excessive crying, and poor eye contact and a near absence of speech and language skills. FOXG1 syndrome is classified as an autism spectrum disorder.

More than a thousand individuals have been diagnosed with FOXG1 syndrome over the word. This number is likely to increase substantially as diagnostic measures improve in more countries. FOXG1 Research Foundation provides resources to the FS parents and FOXG1 researchers. For more info, please click “Learn More” button.