ANKRD11

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.

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 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

SPEECH

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.

 

 

 

BEHAVIOR

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.

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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.

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Family Stories

Stories from ANKRD11 families:

Click here to share your family’s story!