SRCAP

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 our full SRCAP Gene Guide

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.

SRCAP-related syndrome is also known as Floating-Harbor syndrome.

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.

Key Role

The SRCAP gene plays a key role in cell growth.

Symptoms

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

How many people have SRCAP-related syndrome?

As of 2019, about 73 people in the world with changes in the SRCAP gene had been described in the medical literature. The first case of SRCAP-related syndrome was described in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about the SRCAP gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

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.

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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.

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Research Opportunities

Simons Searchlight

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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Family Stories

We do not currently have any stories from SRCAP families.

Click here to share your family’s story!