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The information for this summary of CASK-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full CASK Gene Guide
The online Gene Guide includes more information about CASK such as the chance of having another child with this condition, behavior and development concerns linked to CASK-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
CASK-related syndrome is also called FG syndrome 4, intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, and intellectual developmental disorder, with or without nystagmus. For this webpage, we will be using the name CASK-related syndrome to encompass the wide range of variants observed in the people identified.
What is CASK-related syndrome?
CASK-related syndrome happens when there are changes to the CASK gene. These changes can keep the gene from working as it should.
Key Role
The CASK gene plays a key role in the development of the brain and the function of brain cells. It’s especially important in controlling the connections between brain cells.
Symptoms
Because the CASK gene is important for brain activity, many people who have CASK-related syndrome have:
- Developmental delay
- Intellectual disability
- Small head size
- Motor difficulties or movement disorders
- Lower than average muscle tone
- Speech difficulties
- Autism
- Repeated hand movements
- Seizures
- Repetitive eye movements, also called nystagmus
- Hyperactivity
- Aggression
How many people have CASK-related syndrome?
As of 2024, about 207 people with CASK-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – CASK Facebook group
- CASK Gene Foundation website – caskgene.org
- CASK Research Foundation website – caskresearch.org
– CASK Research Foundation – Facebook page
– CASK Research Foundation – Instagram - Geisinger Developmental Brain Disorder Gene Database – CASK
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. Check out the GeneReviews for CASK.
Research Article Summaries
We currently do not have any article summaries for CASK, but we add resources to our website as they become available. The information available about CASK is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CASK articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about CASK genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.