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ANKRD11

The information for this summary of ANKRD11-related syndrome comes from research publications. This is not meant to take the place of medical advice. 

Click here for our full ANKRD11 gene guide

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.

ANKRD11-related syndrome is also called KGB syndrome. For this webpage, we will be using the name ANKRD11-related syndrome to encompass the wide range of variants observed in the people identified. 

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View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is ANKRD11-related syndrome?

ANKRD11-related syndrome happens when there are changes in the ANKRD11 gene. These changes can keep the gene from working as it should. 

Key Role

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. 

Symptoms

Because the ANKRD11 gene is important for brain activity, many people who have ANKRD11-related syndrome have: 

  • Developmental delay 
  • Intellectual disability 
  • Behavioral issues 
  • Large upper front teeth, also called macrodontia, and other unusual facial features 
  • Skeletal changes, such as a curved spine and short fingers, short toes, or both 
  • Small head size, also called microcephaly 
  • Heart structure defects 
  • Seizures

How many people have ANKRD11-related syndrome?

As of 2026, over 340 people with ANKRD11-related syndrome have been described in medical research. The first person was found in 1975. Scientists expect to find more people who have the syndrome as access to genetic testing improves. 

Learn more about the ANKRD11 gene and connect with other Simon Searchlight families with the resources below:

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for ANKRD11.

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Research Article Summaries

Below, we have summarized research articles about changes in the ANKRD11 gene. We hope you find this information helpful.

The information available about ANKRD11 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for ANKRD11 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

 

Clinical and genetic aspects of KBG syndrome

Original research article by K. Low et al. (2016).

Read the article here and the Simons Searchlight summary here.

 

Clinical whole-exome sequencing for the diagnosis of Mendelian disorders

Original research article by Y. Yang et al. (2013).

Read the article here and the Simons Searchlight summary here.

 

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Original research article by A. Sirmaci et al. (2011).

Read the abstract here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ANKRD11 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

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Family Stories

Stories from ANKRD11 families:

Click here to share your family’s story!

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Previous Quarterly Reports