FOXG1 syndrome

Neurological Disorders

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this disease, please refer to RVA Partner, FOXG1 Research Foundation Australia.¹

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.

Contributors

This page has been co-developed with RVA Partner, FOXG1 Research Foundation Australia.¹

Emergency Management

There may be special considerations for the emergency management of individuals living with FOXG1 syndrome presenting to emergency departments.

Individuals with FOXG1 syndrome may be unable to communicate effectively, and will require a carer with them in the hospital or emergency department.

Clinical Care Guidelines

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.

Synonyms

FOXG1-related encephalopathy; FOXG1-related epileptic-dyskinetic encephalopathy

ORPHA:561854 FOXG1 Syndrome

ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion

ICD-10: Q04.8

Summary

FOXG1 syndrome is a neurodevelopmental condition that affects the proper development of the brain.^1,2 It is a genetic condition caused by changes in the FOXG1 gene that is important for early brain development.^1,3 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.²

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

“Being parents of a child with FOXG1 syndrome is like a second full time job. Our daughter Mina requires assistance for all of her day to day activities, for example she is unable to independently move so in the morning we need to take her out of bed, change her nappy and feed her. None of these tasks she is able to do by herself. Mina has Occupational Therapy, Physio, Speech and other appointments throughout the week and we are lucky enough to have carers to help us take care of her. Currently there is no cure or therapy for FOXG1 syndrome but we are working very hard toward it.” – Steve Hille, FOXG1 Research Foundation Australia CEO & Dad to Mina

Useful Links for Professionals

Orphanet: FOXG1 syndrome

Orphanet: FOXG1 syndrome due to 14q12 microdeletion

Human Phenotype Ontology: FOXG1 syndrome

Symptoms

Features of FOXG1 syndrome include smaller head size (microcephaly) and abnormal brain development including corpus callosum agenesis.²

Other symptoms include global developmental delay, delayed or limited speech and social skills, intellectual disabilities, feeding difficulties, movement disorders, seizures and sleep disturbances.^1-4 There may also be gastrointestinal issues, visual impairment and breathing abnormalities.^1,4

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.

Cause/Inheritance

FOXG1 syndrome is caused by genetic changes in the FOXG1 gene on Chromosome 14. Over 100 different genetic changes have been reported to be associated with FOXG1 Syndrome.⁴ Whilst every individual has two copies of the FOXG1 gene, one affected copy is sufficient to cause FOXG1 syndrome (autosomal dominant condition).

Most of the genetic changes occur spontaneously (de novo), but in very rare cases, it has been inherited from an unaffected parent that carries the genetic change in some, but not all, of their cells (mosaicism).^2,3

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 on the National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

Diagnosis of FOXG1 syndrome may be made using genetic testing to identify genetic changes affecting the FOXG1 gene.³ It is best to speak with your medical team to find out about any available genetic testing for FOXG1 syndrome.

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.^1,4

Treatment

There is currently no curative treatment for FOXG1 syndrome, but there are strategies to assist in the management of symptoms. This often requires a multidisciplinary medical team. Management strategies may include physical, occupational and developmental therapies, use of assistive devices such as augmentative and alternative communication tools, nutritional support and seizure management.^1,3

Please speak with your medical team to learn more about management strategies for FOXG1 syndrome and its associated symptoms. Treatment will depend on an individual’s specific symptoms.

Clinical Care

Healthcare professionals involved in the treatment of FOXG1 syndrome may include general practitioners (GP), paediatricians, geneticists, neurologists, physiotherapists, occupational therapists and dietitians.^2,3 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Research

Information about global research on FOXG1 syndrome can be found at FOXG1 Research Foundation: Research & Development.

Please visit Australian Clinical Trials to learn about clinical trials for FoxG1 syndrome in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for FOXG1 syndrome in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

FOXG1 Research Foundation Australia Chapter RVA Partner Australian Organisation
Website: https://foxg1research.org/australia
Email: [email protected]
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 Australian Organisation
Website: https://foxg1.org.au/
Contact form: https://foxg1.org.au/contact

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 necessarily monitor or endorse each group/organisation’s operational governance.

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.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on FOXG1 syndrome can be found at:

References

FOXG1 Research Foundation. Accessed 28 February 2023. https://foxg1research.org/
Genetic and Rare Diseases (GARD) Information Center. FOXG1 Syndrome. Accessed 28 February 2023. https://rarediseases.info.nih.gov/diseases/12825/foxg1-syndrome
Florian C, Bahi-Buisson N, Bienvenu T. FOXG1-related disorders: From clinical description to molecular genetics. Mol. Syndromol. 2012; 2(3-5):153-163. http://doi.org/10.1159/000327329
Wong L, Singh S, Wang H, Hsu C, Hu S, Lee W. FOXG1-related syndrome: From clinical to molecular genetics and pathogenic mechanisms. Int. J. Mol. Sci. 2019; 20(17):4176. http://doi.org/10.3390/ijms20174176

Page Last Updated

06/03/2024 14:30