Below is a summary for the SRCAP gene observed in research publications. This is not meant to take the place of medical advice.
What is SRCAP-related Syndrome?
SRCAP-related syndrome happens when there are changes to the SRCAP gene. These changes can keep the gene from working as it should. SRCAP-related syndrome is also known as Floating-Harbor syndrome.
The SRCAP gene plays a key role in cell growth.
Because the SRCAP gene is important in the development of brain cells, many people who have SRCAP-related syndrome have:
- Language problems
- Intellectual disability
- Delay in bone growth that ends between ages 6 and 12
- Short height
- Skeletal changes
- Changes in facial features
Do people who have SRCAP-related syndrome look different?
People who have SRCAP-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Triangular face
- Deep set eyes
- Wide mouth
- Low set ears
- Long nose
Research Article Summaries