Below is a summary for the ASXL3 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.

Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Sharing your information is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

What is ASXL3-related syndrome?

ASXL3-related syndrome happens when there are changes to the ASXL3 gene. These changes can keep the gene from working as it should. ASXL3-related syndrome is also known as Bainbridge-Ropers syndrome or BRPS.

Key Role

The ASXL3 gene plays a key role in development of the brain and the body. It affects parts of the body including the spinal cord, liver, kidneys, and bone marrow.


ASXL3-related syndrome can affect communication, social, and learning skills. The effects can be moderate to severe. Because the ASXL3 gene plays a key role in how cells work, many people who have ASXL3-related syndrome have:

  • Intellectual disability

  • Changes in skull and facial features

  • Feeding problems

  • Delayed growth

  • Curved spine, also called scoliosis

Do people who have ASXL3-related syndrome look different?

People who have ASXL3-related syndrome often have different facial features. Appearance can vary and can include some but not all of these features:

  • Wide mouth with full lower lip. High-arched roof of the mouth and crowded teeth.

  • Eyes that are slanted down. Eyes that are slanted up are less common.

  • Long nose with wide nasal bridge. Tip of nose is broad and pointed up.

  • Narrow head shape with wide forehead.

  • High-arched eyebrows.


Most people who have ASXL3-related syndrome are on the autism spectrum. Many have sleep problems.


Everyone who has ASXL3-related syndrome has some level of intellectual disability. It can range from moderate to severe, but most cases are severe.


About one-third of people who have ASXL3-related syndrome have seizures. Seizures start very early in some people. For others, seizures can start later in life.


Support Resources



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 ASXL3-related disorder.


Research Article Summaries

Below, we have summarized research articles about changes in the ASXL3 gene. We hope you find this information helpful. The information available about ASXL3 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 ASXL3 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 whole-exome sequencing in child neurology practice Original research article by S. Srivastava et al. (2014). Read the abstract here and the Simons Searchlight summary here.
  • De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome Original research article by M.N. Bainbridge et al. (2013). Read the article here and the Simons Searchlight summary here.
  • De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies Original research article by D.L. Dinwiddie et al. (2013). Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about ASXL3 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.


Family Stories

Stories from ASXL3 families:

Click here to share your family’s story!