Below is a summary for the PACS2 gene observed in research publications. This is not meant to take the place of medical advice.
What is PACS2-related syndrome?
PACS2-related syndrome happens when there are changes in the PACS2 gene. These changes can keep the gene from working as it should.
The PACS2 gene plays an important role in the life cycle of cells, and it is important for communication for different structures within cells.
Because the PACS2 gene is important for many parts of the body, some people may have:
- Developmental delay
- Intellectual disability
- Delayed walking and speech
- Low muscle tone
- Heart defects
- Genital issues in males
Do people who have PACS2-related syndrome look different?
People who have PACS2-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Wide-set eyes
- Uncontrollable eye movements
- Thin upper lip
- Wide mouth
- Fifth finger that curves
How many people have PACS2-related syndrome?
As of 2022, about 15 people with PACS2-related syndrome have been described in medical research.
Research Article Summaries