Below is a summary for the CREBBP gene observed in research publications. This is not meant to take the place of medical advice.
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.
What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome happens when there are changes to the CREBBP gene or the EP300 gene. These changes can keep these genes from working as they should.
The CREBBP and EP300 genes play a key role in controlling the activity of other genes.
Because the CREBBP and EP300 genes are important in the development of the body, many people who have Rubinstein-Taybi syndrome have:
- Intellectual disability
- Growth problems and short height
- Behavior issues
- Changes in facial features and the hands and feet
How many people have Rubinstein-Taybi syndrome?
As of 2019, about 300 people in the world with Rubinstein-Taybi syndrome had been described in the medical literature. The first case of Rubinstein-Taybi syndrome was described in 1995. Scientists estimate that the condition happens in 1 in 100,000 to 1 in 125,000 live births.
Research Article Summaries