FOXG1 Syndrome

What is FOXG1 syndrome? 

FOXG1 syndrome is a neurological and developmental disorder that usually begins in infancy, often in the first month of life. Irritability occurs first, with repeated seizures (epilepsy) often occurring later. These seizures may be difficult to treat with medication. Children with FOXG1 may also have delayed development, intellectual disability, abnormal movements and trouble walking and sitting.  

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 in the gene is new to the child and not inherited from parents. In other words, a new spelling mistake happened around the time the egg and sperm came together and isn’t caused by something the parents did or didn’t do.  

Who gets FOXG1 syndrome? 

FOXG1 syndrome occurs in both males and females. Due to its rarity and genetic causes, experts don’t know exactly how often FOXG1 syndrome develops. Some estimates suggest it occurs in 1 in every 30,000 births.  FOXG1 usually occurs randomly, meaning it’s not passed down from parents.

What are the signs and symptoms of FOXG1 syndrome? 

Symptoms of FOXG1 syndrome usually begin within the first year of life, often in the first month. Children have epilepsy, irritability, developmental delays and intellectual disability.

Your child's doctor will look for the following symptoms to help make a diagnosis: 

• Abnormal MRI scan of the brain 
• Epilepsy that is difficult to treat, known as refractory epilepsy 
• Irritability 
• Lack of purposeful hand movements 
• Lack of speech 
• Balance and coordination problems, including the inability to sit or walk in many cases 
• Intellectual and developmental disabilities 
• Cortical visual impairment 
• Reflux, constipation, difficulty swallowing and breathing problems 
• Abnormal movements of the hands or legs that can interfere with purposeful movement 
• Sleep problems 

What tests are used to diagnose FOXG1 syndrome? 

Since the signs and symptoms of FOXG1 syndrome are common to many disorders, we use a special test (blood or saliva) to check for the genetic change in the FOXG1 gene. An abnormal MRI scan of the brain may suggest a diagnosis of FOXG1 syndrome, as well, but we still have to confirm it with a blood or saliva test.

How is FOXG1 syndrome treated? 

Because of its genetic nature, there isn’t a cure for FOXG1 syndrome currently. We’ll help your family better understand what this diagnosis means. At Children's Hospital Colorado, our treatments help reduce your child’s symptoms and create the best possible quality of life. We see people of all ages for FOXG1 syndrome in our Rett Clinic. For many families who travel to see us, we collaborate with your local care team. 

Some treatment approaches include medicines to address possible seizures, gastroesophageal reflux, sleep, movement problems, constipation and breathing problems. Feeding problems may also occur, requiring some children to need supplemental food from a feeding tube. Scoliosis (a curved spine) may also require orthopedic interventions like braces or surgeries. 

Physical, occupational and speech therapy can also help with motor, communication, sleep and behavioral difficulties. Although no cure is available, these supportive treatments help most patients adapt to the symptoms of FOXG1 syndrome. 

Why choose us for the treatment of FOXG1 syndrome? 

Our team has developed a wealth of experience and knowledge about FOXG1 syndrome, and we're recognized as national and international leaders in the field. We are designated as a Center of Excellence by the FOXG1 Research Foundation, meaning we provide the highest level of FOXG1 care and advance treatment options through research.  

We partner with government, foundation and industry partners to participate in research studies and clinical trials so we can find new and better ways to treat FOXG1 Syndrome. Participation in research is always voluntary. We strive to develop and provide the most up-to-date treatment based on research and care guidelines.  

Our sub-specialty providers and therapists come together to evaluate and develop a treatment plan tailored to your child's specific needs. Because so many specialties are housed under the same roof at Children's Colorado, we can provide all the care that children with this syndrome need in one place at our Rett Clinic. 

Contact us 

To make an appointment at the Rett Clinic, families and providers can contact the Rett Clinic at 720-777-4798 or email rettclinic@childrenscolorado.org.

Helpful Resources 

• The FOXG1 Research Foundation is a global family of FOXG1 parents dedicated to finding a cure for all children and adults with FOXG1 syndrome.
• The National Institutes of Health, Genetic and Rare Diseases Information Center provides educational information about FOXG1 such as diagnosis, testing and research.
• Rocky Mountain Rett Association provides regional support for kids with Rett Syndrome, Childhood Disintegrative Disorder (CDD) and FOXG1 syndrome and their families, including education and fundraising events.