FOXG1 Syndrome

What are the signs and symptoms of FOXG1 syndrome?

Symptoms of FOXG1 syndrome usually begin within the first year of life, often in the second month. Children have epilepsy, irritability, developmental delays and intellectual disability. They also have difficulty with walking, talking, sitting and using their hands. Patients also often have difficulty seeing, a condition called cortical visual impairment. Patients with FOXG1 syndrome usually have an abnormal MRI scan of the brain.

What tests are used to diagnose FOXG1 syndrome?

Since the signs and symptoms of FOXG1 syndrome are common to many disorders, a blood test is needed for a diagnosis by checking for a genetic change in the FOXG1 gene. An MRI scan of the brain may suggest a diagnosis of FOXG1 syndrome.

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

• 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
• Epilepsy that is difficult to treat, known as refractory epilepsy
• Abnormal MRI scan of the brain

How is FOXG1 syndrome treated?

Because of its genetic nature, there is no cure for FOXG1 syndrome at this time. At Children's Hospital Colorado, our treatments are designed to help alleviate your child’s symptoms and to create the best possible quality of life. We see people of all ages for FOXG1 syndrome in our Rett Clinic.

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 is also used to address motor, communication, sleep and behavioral difficulties. Although no cure is available, these supportive treatments help most patients adapt to the symptoms of CDD.

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 strive to develop and provide the most up-to-date care based on research and care guidelines. We participate in the latest clinical trials.

Our sub-specialty providers and therapists come together to evaluate and develop a treatment plan that is 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 Rett syndrome need.

Contact us

To make an appointment at the Rett Clinic, families and providers can contact the Rett Clinic at 720-777-4363 or email rettclinic@childrenscolorado.org.

• The International FOXG1 Foundation provides resources to support families affected by FOXG1 as well as educational and research information.
• 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, CDD and FOXG1 syndrome and their families including education and fundraising events.