Rubinstein-Taybi syndrome 2
OMIM number: 613684
Comments closing date: 05/09/2025
Rubinstein-Taybi syndrome 2 is a hereditary (genetic) condition which impacts the body’s
development, particularly of the facial features and intellectual development. It is caused when a
pregnancy inherits a change in a gene called EP300. The EP300 gene controls many other
genes, particularly linked to growth and development of many tissues in the body during
fetal development, including the brain. If a person carries a mutation (also called a pathogenic
variant) in one copy of this gene, it disrupts the development of these tissues, leading to the
features of the condition. This can lead to variable features, including intellectual disability (which can be more moderate to more profound), specific facial features, and commonly changes to the
hands and feet or skeleton. There is no specific cure for the condition, and while it can impact the
quality of life, supportive care and additional support can be provided.
Review date: 8 August 2027
