Below is a summary for the ANKRD11 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about ANKRD11 such as the chance of having another child with this condition, behavior and development concerns linked to ANKRD11-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
This latest report includes updated information about Simons Searchlight participants with ANKRD11-related syndrome using insights by families like yours.
Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!
View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is ANKRD11-related syndrome?
ANKRD11-related syndrome happens when there are changes to the ANKRD11 gene or when a piece of DNA that includes the ANKRD11 gene is missing. These changes can keep the gene from working as it should. The syndrome is also known as KBG syndrome.
The ANKRD11 gene plays a key role in the growth of the brain and bones. It’s also important for the growth of new cells and for connections between brain cells.
Because the ANKRD11 gene is important in the development and function of brain cells, many people who have ANKRD11-related syndrome have:
- Intellectual disability and developmental delay
- Behavioral issues
- Large upper front teeth, also called macrodontia, and other unusual facial features
- Skeletal differences, such as a curved spine and shortened fingers, shortened toes, or both
How many people have ANKRD11-related syndrome?
As of 2019, doctors had described about 100 people in the world with changes in the ANKRD11 gene. The first case of ANKRD11-related syndrome was described in 1975. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Research Article Summaries
Previous Registry Reports