Below is a summary for the SRCAP gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about SRCAP such as the chance of having another child with this condition, behavior and development concerns linked to SRCAP-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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
Research Article Summaries