FOXG1 syndrome is a neurodevelopmental condition that affects the proper development of the brain.¹ It is a genetic condition caused by genetic changes (variants) in the FOXG1 gene that is important for early brain development.² Features of FOXG1 syndrome includes an unusually small head size (microcephaly), structural abnormalities of the brain, cognitive and developmental delays, feeding difficulties, seizures and movement disorders. The symptoms of FOXG1 syndrome varies between individuals and it can affect both males and females.¹

Synonyms: FOXG1-related encephalopathy, FOXG1-related epileptic-dyskinetic encephalopathy.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:561854 FOXG1 syndrome
ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion
There is no known ICD-11 classification.

Features of FOXG1 syndrome include smaller head size (microcephaly) and abnormal brain development including corpus callosum agenesis.¹

Other symptoms include global developmental delay, delayed or limited speech and social skills, intellectual disabilities, feeding difficulties, movement disorders, seizures and sleep disturbances.^1-3 There may also be gastrointestinal issues, visual impairment and breathing abnormalities.

The symptoms and severity of FOXG1 syndrome often vary between individuals.

Please speak to your medical team to learn more about the symptoms and complications of FOXG1 syndrome.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

FOXG1 syndrome is a genetic condition. It is caused by disease-causing genetic changes (variants) in the FOXG1 gene on Chromosome 14. Over 100 different genetic variants have been reported to be associated with FOXG1 Syndrome.³

All individuals have two copies (alleles) of the FOXG1 gene – one on each chromosome that is inherited from each parent. FOXG1 syndrome is an autosomal dominant condition, which means that having a genetic variant in just one of the FOXG1 gene copies can result in FOXG1 syndrome.

For most individuals with FOXG1 syndrome, their genetic variant in FOXG1 occurs randomly (de novo) prior to birth and is not passed down (inherited) from their parents. In a small number of reported families, the genetic variant in one of the FOXG1 alleles had been inherited from a parent who has the genetic change in some but not all of their cells (this is called genetic mosaicism); the parent often has typical learning abilities and health.^1,2 More information on genetic mosaicism can be found at Centre for Genetics Education: Mosaicism.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis of FOXG1 syndrome may be made using genetic testing to identify genetic variants affecting the FOXG1 gene.²

For individuals with FOXG1 syndrome, brain magnetic resonance imaging (MRI) may be used to detect for brain abnormalities that have been associated with this syndrome.³

There is currently no curative treatment for FOXG1 syndrome. Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. This may include physical, occupational and developmental therapies, use of assistive devices such as augmentative and alternative communication tools, nutritional support and seizure management.²

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the treatment of FOXG1 syndrome may include general practitioners (GP), paediatricians, geneticists, neurologists, physiotherapists, occupational therapists and dietitians.^1,2 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. Palliative care is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. For more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

We are not aware of any clinical care guidelines for FOXG1 syndrome in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with FOXG1 syndrome at emergency departments/services:

• Individuals with FOXG1 syndrome may be unable to communicate effectively.

FOXG1 Research Foundation: Research & Development has information about research projects for FOXG1 syndrome and information for researchers.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Australian Organisations:

FOXG1 Research Foundation Australia Chapter
Website: https://foxg1research.org/australia
The FOXG1 Research Foundation (FRF) is a global organisation accelerating research to cure FOXG1 syndrome and related neurological disorders while supporting and advocating for patients and families. The Australian FOXG1 Research Foundation is the Australian branch of the global FOXG1 Research Foundation.

FOXG1 Foundation Australia
Website: https://foxg1.org.au/

FOXG1 Foundation Australia’s mission is to provide hope and support to individuals with FOXG1 and their families via any means possible, to facilitate discussion and fund research within the medical community, and to bring awareness and education to the public.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

FOXG1 syndrome vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on FOXG1 syndrome can be found at:

• FOXG1 Research Foundation: Parents and Caregivers has support resources including for newly diagnosed
• Genetic and Rare Diseases (GARD) Information Center: FOXG1 Syndrome

• GeneReviews^®: FOXG1 Syndrome
• Orphanet: FOXG1 syndrome
• Orphanet: FOXG1 syndrome due to 14q12 microdeletion
• Human Phenotype Ontology: FOXG1 syndrom

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with FOXG1 Research Foundation Australia.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.