Below is a summary for the SRCAP gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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