National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

FOXG1 syndrome


Other Names:
FOXG1-related disorder
Categories:
FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. Features vary from case to case, and may include an unusually small head size (microcephaly), a specific pattern of brain development (including partial or complete agenesis of the corpus callosum, reduced folds on the surface of the brain, and reduced white matter), intellectual disability, abnormal or involuntary movements, feeding problems, sleep disturbances, seizures, irritability and excessive crying, and limited communication and social skills. Both males and females may be affected. The condition is caused by changes involving the FOXG1 gene. In some cases, there are mutations within the gene; in others, there is a deletion of genetic material from the region of the long (q) arm of chromosome 14 where the gene is located. FOXG1 syndrome is considered an autosomal dominant condition because one copy of the altered gene in each cell is sufficient to cause the disorder.[1] While it is possible for parents to be carriers, most cases result from new mutations.[2][3]
Last updated: 11/5/2015

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to FOXG1 syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Rett Syndrome, MECP2 Duplications, & Rett-related Disorders Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research into three disorders of the nervous system: Rett syndrome (RTT), MECP2 duplication disorder and RTT-related disorders. Major goals of the Consortium are to identify and understand the core clinical features of each disorder; identify factors that can modify the severity of the disorders; and understand the relationship between patients’ symptoms and their brain imaging and electroencephalography alterations. Click on the name of the study for more information.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with FOXG1 syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for FOXG1 syndrome:
    FOXG1 Syndrome Patient Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss FOXG1 syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. FOXG1 syndrome. Genetics Home Reference (GHR). December 2013; http://ghr.nlm.nih.gov/condition/foxg1-syndrome. Accessed 11/5/2015.
  2. About FOXG1. International FOXG1 Foundation. http://www.foxg1.com/about-foxg1.html. Accessed 11/5/2015.
  3. RETT Syndrome, Congenital Variant. Online Mendelian Inheritance in Man (OMIM). November 2014; http://www.omim.org/entry/613454. Accessed 11/5/2015.