Below is a summary for the EP300 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 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
Do people who have Rubinstein-Taybi syndrome look different?
People who have Rubinstein-Taybi syndrome often have distinct features. Appearance can vary and can include some but not all of these features:
- Short height
- A small head, also called microcephaly
- Facial features that are different from those of other family members
- Broad thumbs that may be positioned differently on the hand
- Big first toes
Research Article Summaries