WAC
The information for this summary of WAC-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full WAC Gene Guide
The online Gene Guide includes more information about WAC such as the chance of having another child with this condition, behavior and development concerns linked to WAC-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
WAC-related syndrome is also called DeSanto-Shinawi syndrome or WAC-related intellectual disability. For this webpage, we will be using the name WAC-related syndrome to encompass the wide range of variants observed in the people identified.
What is WAC-related syndrome?
WAC-related syndrome happens when there are changes in the WAC gene. These changes can keep the gene from working as it should.
Key Role
The WAC protein plays an important role in repairing DNA after it’s damaged.
Symptoms
Because the WAC gene is important for brain activity, many people who have WAC-related syndrome have:
- Developmental delay
- Intellectual disability
- Delayed development of speech
- Seizures
- Autism
- Brain changes seen on magnetic resonance imaging (MRI)
- Attention-deficit/hyperactivity disorder (ADHD)
- Anxiety
- Aggression and self-injury behaviors
- Feeding issues and constipation
- Heart structure defects
- Low muscle tone
- Respiratory issues
How many people have WAC-related syndrome?
As of 2025, about 102 people with WAC-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – WAC Facebook group
- DeSanto Shinawi Syndrome website – dessh.org
– DeSanto Shinawi Syndrome – Facebook page
– DeSanto Shinawi Syndrome – Twitter - Geisinger Developmental Brain Disorder Gene Database – WAC
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 WAC.
Research Article Summaries
We currently do not have any article summaries for WAC, but we add resources to our website as they become available.
The information available about WAC 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 WAC 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 WAC 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 WAC families.
Click here to share your family’s story!