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.
Research Article Summaries