SETD2
The information for this summary of SETD2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full SETD2 Gene Guide
The online Gene Guide includes more information about SETD2 such as the chance of having another child with this condition, behavior and development concerns linked to SETD2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
SETD2-related syndrome is also called autosomal dominant intellectual developmental disorder-70 (MRD70), Luscan-Lumish syndrome, and Rabin-Pappas syndrome (RAPAS) or SETD2 neurodevelopmental disorder with multiple congenital anomalies. For this webpage, we will be using the name SETD2-related syndrome to encompass the wide range of variants observed in the people identified.
What is SETD2-related syndrome?
SETD2-related syndrome happens when there are changes in the SETD2 gene. These changes can keep the gene from working as it should.
Key Role
The SETD2 gene controls the activity of other genes and is important for brain function.
Symptoms
Because the SETD2 gene is important for brain activity, many people who have SETD2-related syndrome have:
- Intellectual disability
- Speech delay
- Larger than average head size in some people
- Smaller than average head size in some people
- Overgrowth and/or obesity
- Failure to thrive
- Advanced bone age
- Autism
- Low muscle tone
- Seizures
- Vision issues
- Hearing loss
- Heart defects
- Urinary tract defects
- Brain changes seen on magnetic resonance imaging (MRI)
How many people have SETD2-related syndrome?
As of 2026, about 54 people in the world with changes in the SETD2 gene had been described in medical research. The first case of SETD2-related syndrome was described in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Support Resources
- Simons Searchlight Community – SETD2 Facebook group
- Luscan-Lumish Syndrome SETD2 Family Support – SETD2 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – SETD2
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.
Click here for the SETD2 GeneReviews.
Research Article Summaries
We currently do not have any article summaries for SETD2, but we add resources to our website as they become available.
The information available about SETD2 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 SETD2 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 SETD2 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.