FOXG1 Syndrome

FOXG1 syndrome is a rare neurological genetic condition characterized by moderate-to-profound developmental delay, intellectual disability, and structural brain abnormalities.  

The syndrome is named after the FOXG1 gene (forkhead box G1), which is one of the first and most important genes involved in early brain development.

FOXG1 syndrome is caused by changes (mutations) in the FOXG1 gene, which is located on chromosome 14.  

These mutations can occur spontaneously or be inherited from a parent who carries a mutated FOXG1 gene.

The symptoms of FOXG1 syndrome may start to appear shortly after birth but can appear later in childhood. The types of symptoms and intensity may vary among people with the disease. The following list of symptoms is not complete but may include:  

• Lack of language and speech development
• Abnormal respiratory system physiology
• Bilateral tonic-clonic seizures
• Teeth grinding (bruxism) 
• Cognitive impairment
• Involuntary muscle movements (dyskinesis)
• Feeding difficulties
• Abnormal gait and walking disability  
• Motor delay
• Repetitive movements
• Progressive microcephaly—where the child's head circumference falls progressively behind age-and-sex dependent norms  
• Sleep abnormalities
• Visual impairment 

FOXG1 is diagnosed through genetic testing and is sometimes confirmed with a brain MRI. An electroencephalogram (EEG) may be used to check for seizure activity.  

There is no cure for FOXG1 and treatment focuses on managing symptoms through a multidisciplinary approach.  

Therapeutic care for FOXG1 may include:  

• Physical, occupational, and speech therapy
• Feeding therapy
• Assistive devices—including mobility and positioning devices, and communications aids  
• Orthopedic care—including braces or surgery
• Other supportive care 

If your child lives with the effects of FOXG1 syndrome, they need support and care from a team of experts who understand this complex condition.  

To give your child their best chance at leading a typical, active life, teams at Gillette Children’s organize treatment programs around the complex conditions that accompany FOXG1 syndrome. At every stage, you and your child will work with internationally recognized experts in a family-centered environment.

Gillette Children’s is recognized as a FOXG1 Research Foundation Center of Excellence. This recognition means Gillette is a leading clinic and research center for Rett syndrome, FOXG1 Syndrome, and related conditions.

As part of their treatment, your child might also receive care from our specialists in the following services:

• Orthotics, Prosthetics and Seating
• Cardiology
• Child life
• Endocrinology
• Gait and motion analysis
• Gastroenterology
• Adult Services
• Medical genetics and genetic counseling
• Neurology
• Neuropalliative care
• Orthopedics and spine
• Pediatrics and general medicine
• Psychology
• Pulmonology
• Rehabilitation medicine
• Social work

 Drawing on all these areas of expertise, we work together to test, diagnose and develop treatment plans for each child. Our team approach lets us meet your child’s needs for specialized health care, often during a single visit at one location. Our goal is to provide your family with the information you need to make informed health care decisions.