Living with FOXG1 disorder
A genetic brain condition with small head size, severe developmental delay, movement problems and seizures, starting in the newborn period.
Understanding FOXG1 disorder
Infants are small at birth, and the head grows slowly, leading to a small head size (microcephaly). Brain differences include a thin corpus callosum and less white matter. Children typically have severe intellectual disability, involuntary movements, and rarely learn to sit or walk alone. Feeding problems, sleep problems, seizures, and irritability are common. It was once described as a form of Rett syndrome, but affects both males and females.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Severe developmental delay
- Involuntary movements (dyskinesia, dystonia)
- Seizures
- Feeding difficulties and acid reflux
- Sleep problems and irritability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in FOXG1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
FOXG1 Research Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: FOXG1 Research Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with FOXG1 Research Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FOXG1 gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: foxg1 inherited genetic disease; foxg1 syndrome; foxg1 syndrome due to intragenic alteration; foxg1-related epileptic-dyskinetic encephalopathy; inherited genetic disease caused by mutation in foxg1; rett syndrome, congenital variant
Patient organizations
- FOXG1 Research FoundationFOXG1 disorder · United States
- Believe in a CureFOXG1 disorder · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with FOXG1 disorder.
Explore research for FOXG1 disorder
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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