CREBBP

The information for this summary of CREBBP-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full CREBBP Gene Guide

The online Gene Guide includes more information about CREBBP such as the chance of having another child with this condition, behavior and development concerns linked to CREBBP-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

CREBBP-related syndrome is also called Rubinstein-Taybi syndrome 1 and Menke-Hennekam syndrome-1. For this webpage, we will be using the name CREBBP-related syndrome to encompass the wide range of variants observed in the people identified.

What is CREBBP-related syndrome?

CREBBP-related syndrome happens when there are changes to the CREBBP gene. These changes can keep these genes from working as they should.

A related gene called EP300 has a similar function to the CREBBP gene.

Key Role

The CREBBP and EP300 genes play a key role in controlling the activity of other genes.

Symptoms

Because the CREBBP gene is important in brain development and function, many people who have CREBBP-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Growth problems, short height, smaller than average head size
  • Hearing loss
  • Upper airway infections
  • Feeding difficulties
  • Autism
  • Seizures
  • Speech delay
  • Risk for tumor formation, especially in the head
  • Risk for leukemia

How many people have CREBBP-related syndrome?

As of 2024, at least 493 people with CREBBP-related syndrome have been identified in a medical clinic. Scientists estimate that the condition happens in 1 in 100,000 to 1 in 125,000 live births.

Learn more about the CREBBP 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 CREBBP.

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Research Article Summaries

We currently do not have any article summaries for CREBBP, but we add resources to our website as they become available.

The information available about CREBBP 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 CREBBP 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 CREBBP 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 CREBBP families.

Click here to share your family’s story!