FOXG1 syndrome
Synonyms: FOXG1-related epileptic-dyskinetic encephalopathy
A rare genetic neurological disorder characterized by early onset of microcephaly severe global developmental delay and cognitive impairment dyskinesia and hyperkinetic movements visual impairment autistic behavior stereotypies sleep disturbance epilepsy and cerebral malformations (such as corpus callosum hypogenesis forebrain anomaly and delayed myelination). Speech is minimal or absent and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations with the addition of facial dysmorphism and agenesis of the corpus callosum.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
FOXG1 syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Believe in a Cure, Inc.
We seek to develop a treatment for FOXG1 syndrome and provide support to impacted families.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
FOXG1 Research Foundation
The FOXG1 Research Foundation (FRF) is the parent-led, global rare disease patient organization driving the research to find successful and precise treatments, and ultimately a cure, for every individual in the world with FOXG1 syndrome, while deeply focusing on patient advocacy, education, and family support.
Genetic Epilepsy Team Australia
Collaboration of research and care
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
SCN2A Foundation
The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Children’s Rare Disorders Fund
The Children's Rare Disorders Fund is dedicated to curing rare genetic disorders generally identified in childhood, beginning with FOXG1 Syndrome. Founded by parents of a toddler affected with FOXG1, The CRD Fund focuses research and development projects, aiming to fund research for as many rare disorders as possible, in order to cure as many children as possible.
Clinical Trials
For a list of clinical trials in this disease area, please click here.