KMT2A
The information for this summary of KMT2A-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full KMT2A Gene Guide
The online Gene Guide includes more information about KMT2A such as the chance of having another child with this condition, behavior and development concerns linked to KMT2A-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
KMT2A-related syndrome is also called Wiedemann-Steiner syndrome (WDSTS). For this webpage, we will be using the name KMT2A-related syndrome to encompass the wide range of variants observed in the people identified.
What is KMT2A-related syndrome?
KMT2A-related syndrome happens when there are changes in the KMT2A gene. These changes can keep the gene from working as it should.
Key Role
The KMT2A gene plays a key role in how the brain and body develop.
Symptoms
Because the KMT2A gene is important in the development of the brain and the body, many people who have KMT2A-related syndrome have:
- Developmental delay
- Intellectual disability
- Difficulty eating
- Slow growth
- Short height
- Extra hair growth on the body
- Low muscle tone
- Movement issues
- Speech delay
- Features of autism
- Aggressive behavior
How many people have KMT2A-related syndrome?
As of 2024, over 180 people with KMT2A-related syndrome have been reported in medical research.
Support Resources
- Simons Searchlight Community – KMT2A Facebook group
- Wiedemann-Steiner Syndrome Foundation – wssfoundation.org
– Wiedemann-Steiner Foundation – Facebook page - Geisinger Developmental Brain Disorder Gene Database – KMT2A
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 is currently no GeneReviews for KMT2A.
Research Article Summaries
We currently do not have any article summaries for KMT2A, but we add resources to our website as they become available.
The information available about KMT2A 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 KMT2A 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 KMT2A 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.
Family Stories
We do not currently have any stories from KMT2A families.
Click here to share your family’s story!