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What is YY1-related syndrome?
YY1-related syndrome happens when there are changes to the YY1 gene. These changes can keep the gene from working as it should. YY1-related syndrome is also called Gabriele-de Vries syndrome.
YY1 plays different roles in the body, including in development before birth and in the development, growth, and division of cells.
Because the YY1 gene is important in development, many people who have YY1-related syndrome have:
- Developmental delay
- Intellectual disability
- Attention Deficit Hyperactivity Disorder, or ADHD
- Anxiety disorders
- Autism spectrum disorder
Do people with YY1-related syndrome look different?
People who have YY1-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Broad forehead
- Fullness in the upper eyelids
- A round nose
- Pointed chin
- Tooth defects
Research Article Summaries