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What is FoxG1 syndrome (FS)?

FoxG1 syndrome (FS), a rare neurodevelopmental disorder, is caused by inactivating mutations in FOXG1 gene.  Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain, reduced folds and grooves on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.  Children with the condition typically have severe intellectual disability, abnormal or involuntary movements, such as jerking movements of the arms and legs and repeated hand motions, inability to learn 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.  So FS is classified as an autism spectrum disorder.

There are over a few hundred FS kids over the word and this number is expected to increase as diagnostic measures are in place in more countries. There are a number of private foundations and help resources available, including the International FoxG1 Foundation and its associated Facebook site below.