Below is a summary for DeSanto-Shinawi syndrome observed in research publications. This is not meant to take the place of medical advice
What is DeSanto-Shinawi syndrome?
DeSanto-Shinawi syndrome happens when there are changes to the WAC gene. These changes can keep the gene from working as it should.
DeSanto-Shinawi syndrome is also called WAC-related intellectual disability.
The WAC protein plays an important role in the DNA damage response.
Because the WAC gene is important for the proper function of the body’s cells, some people may have:
- Heart structure defects
- Low muscle tone
- Delayed development of speech
- Intellectual disability
- Brain changes seen on magnetic resonance imaging (MRI)
- Attention deficit hyperactivity disorder, also called ADHD
- Aggression and self-injury behaviors
- Feeding issues and constipation
- Respiratory issues
Do people who have DeSanto-Shinawi syndrome look different?
People with DeSanto-Shinawi syndrome may look different. Appearance can vary and can include some but not all of these features:
- Wide forehead
- Full cheeks
- Ears that are missing some of the regular grooves
- Eye and vision issues
- Thin upper lip
How many people have DeSanto-Shinawi syndrome?
As of 2022, about 49 people with DeSanto-Shinawi syndrome have been identified in a medical clinic.
- 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 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.
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.
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