Children's Hospital Colorado

FOXG1 Syndrome

What is FOXG1 syndrome?

FOXG1 syndrome is a neurological and developmental disorder that affects boys and girls. Symptoms of FOXG1 syndrome usually begin in infancy, often in the second month of life. Irritability occurs first, with repeated seizures (epilepsy) occurring later. These seizures are typically difficult to treat with medications. Children with FOXG1 syndrome may have a special type of epilepsy called spasms. They also have delayed development, intellectual disability, and trouble walking and sitting. Many patients have difficulty seeing, a condition called cortical visual impairment. Patients with FOXG1 syndrome usually have an abnormal MRI scan of the brain.

What causes FOXG1 syndrome?

FOXG1 syndrome involves a change or misspelling in a gene called the FOXG1 gene. Even though this is a genetic disorder, the change on the gene is new to the patient and not inherited from parents. In other words, a new spelling mistake happened around the time the egg and sperm came together. This is not caused by something the parents did or didn’t do.

Who gets FOXG1 syndrome?

FOXG1 syndrome is a genetic disorder. We do not know how often this condition happens because it is so rare.