FOXG1 Syndrome

FOXG1 syndrome is a rare neurodevelopmental disorder characterized by severe intellectual disability, movement problems, and seizures. Patients often present with an unusually small head size.

Key characteristics and symptoms of FOXG1 syndrome

Key Characteristics

Intellectual disability: FOXG1 syndrome typically involves severe intellectual disability. Early in life patients have limited eye contact, delayed or absent motor skills, and delayed or absent speech.

Movement problems: Many FOXG1 patients have severe movement problems that limit their ability to walk or sit up on their own. Abnormal and repetitive movements such as handwringing or hand washing are common in FOXG1 patients.

Other common symptoms
  • Seizures
  • Small head size
  • Speech impairment
  • Feeding problems
  • Behavior problems
  • Sleep difficulties
  • Low muscle tone

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How is FOXG1 syndrome diagnosed?

FOXG1 syndrome is suspected based on an assessment of symptoms and is confirmed with genetic testing that identifies a mutation in the FOXG1 gene.

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How is FOXG1 Syndrome treated?

Currently there is no cure for FOXG1 syndrome. Patients are treated for their symptoms, not for the underlying cause of the disease. Medications and therapies can be used to alleviate symptoms. There are currently researchers investigating models and analyzing data to better understand FOXG1 so a cure may be found.

AmbitCare can help you understand how rare disease might be part of your story.

The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.

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Have additional questions? Contact an AmbitCare Ambassador by phone at 508-203-6891 or by email at today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.

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