Below is a summary for the ANKRD11 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 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
Do people who have ANKRD11-related syndrome look different?
People who have ANKRD11-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Triangular shaped face and short head, also called brachycephaly
- Prominent bridge of nose, bulbous nose, forward-facing nostrils
- Broad or bushy eyebrows, eyebrows that meet at the center of the forehead, widely spaced eyes
- Long area between nose and lips, thin upper lip
- Ears that stick out
More than 90 percent of people who have
ANKRD11-related syndrome have some degree of developmental delay, especially in speech. The average age for first words is 36 months.
At least one-half of people who have the syndrome have behavior issues.
JOINTS AND SPINE
About three-quarters of people have differences in their skeletons, such as curvature of the spine, also called scoliosis. Most people have shortened bones in their fingers and toes.
Research Article Summaries