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The information for this summary of KDM6B-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full KDM6B Gene Guide
The online Gene Guide includes more information about KDM6B such as the chance of having another child with this condition, behavior and development concerns linked to KDM3B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
KDM6B-related syndrome is also called Stolerman neurodevelopmental syndrome, neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA), and KDM6B-related neurodevelopmental disorder. For this webpage, we will be using the name KDM6B-related syndrome to encompass the wide range of variants observed in the people identified.
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Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!
View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.
What is KDM6B-related neurodevelopmental disorder?
KDM6B-related neurodevelopmental disorder happens when there are changes to the KDM6B gene. These changes can keep the gene from working as it should.
Key Role
The KDM6B gene plays a role in brain development.
Symptoms
Because the KDM6B gene is important in brain development and function, many people who have KDM6B-related syndrome have:
- Developmental delay
- Intellectual disability
- Autism
- Motor delays
- Speech delays
- Attention deficit hyperactivity disorder, or ADHD
- Lower than average muscle tone
- Stiffness and movement abnormalities
- Sleep issues
- Feeding difficulties
How many people have KDM6B-related neurodevelopmental disorder?
As of 2024, at least 90 people with KDM6B-related syndrome have been described in the medical literature. The first case of KDM6B-related neurodevelopmental disorder was described in 2019.
Learn more about the KDM6B gene and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – KDM6B Facebook group
- Geisinger Developmental Brain Disorder Gene Database – KDM6B
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.
There are currently no GeneReviews for KDM6B.
Research Article Summaries
We currently do not have any article summaries for KDM6B, but we add resources to our website as they become available.
The information available about KDM6B 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.
- Stolerman ES. et al. American Journal of Medical Genetics Part A, 179, 1276-1286, (2019). Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features, pubmed.ncbi.nlm.nih.gov/31124279/.
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 KDM6B 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 KDM6B genetic changes by taking part in our research. You can learn more about the project and sign up here.
TIGER Study
The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in KDM6B. *This study is not affiliated with Simons Searchlight. Click here to learn more about this opportunity.
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.