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
Some people have behavior problems including temper tantrums; attention deficit hyperactivity disorder, also called ADHD; obsessive compulsive disorder, also called OCD; autism; and anxiety.
People who have SRCAP-related syndrome are often short.
Most people who have SRCAP-related syndrome have some degree of intellectual impairment.
- Simons Searchlight Community – SRCAP Facebook group
- Unique – SRCAP Guidebook
- Geisinger Developmental Brain Disorder Gene Database – SRCAP
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
Check out the GeneReviews for Floating Harbor Syndrome.
Research Article Summaries
We currently do not have any article summaries for SRCAP, but we add resources to our website as they become available.
The information available about SRCAP is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SRCAP articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Help the Simons Searchlight team learn more about SRCAP genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
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