Below is a summary for the ADNP 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.”

What is ADNP-related syndrome or Helsmoortel-Van der Aa Syndrome?

ADNP-related syndrome happens when there are changes to the ADNP gene. These changes can keep the gene from working as it should. The syndrome is also known as Helsmoortel-Van der Aa syndrome.

Key Role

The ADNP gene plays a key role in the brain and body, including the heart and intestines.


Because the ADNP gene is important in the development and function of brain cells, many people who have ADNP-related syndrome have:

  • Developmental delay, or intellectual disability, or both
  • Speech and language delay
  • Autism or symptoms of autism
  • Other behavior issues
  • Distinctive facial features Intestinal problems or difficulty eating
  • Heart problems
  • Vision problems
  • Sleep difficulties
  • Seizures

Do people who have ADNP-related syndrome look different?

People who have ADNP-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Enlarged forehead and high hairline
  • Wide bridge of nose
  • Cup-shaped ears that stick out
  • Differences in the appearance of hands, including extra fingers, also called polydactyly

How many people have ADNP-related syndrome?

As of 2019, about 80 people in the world with changes in the ADNP gene have been described in medical research.


Almost everyone who has the syndrome has autism or symptoms of autism. Some people who have the syndrome also have anxiety, obsessive-compulsive disorder, aggressive behavior, temper tantrums, attention deficit hyperactivity disorder, also called ADHD, and sleep problems.



Almost everyone who has the syndrome has a speech delay. Children are often late to start talking and may have a limited vocabulary.



Most people have some level of intellectual disability, ranging from mild to severe, and will need special educational support.


8 out of 12 people have difficulty eating. Eating difficulties are common. People may also have vomiting, constipation, and heartburn or reflux.


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 ADNP.


Research Article Summaries

Below, we have summarized research articles about changes in the ADNP gene. We hope you find this information helpful. The information available about ADNP 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 ADNP articles can be found here. You can also visit the Simons Foundation‘s SFARI Gene website to see information for researchers about this gene.

  • ADNP – Brain development gene emerges as strong autism gene candidate News article by Kate Yandell in the Simons Foundation’s online publication Spectrum. Read the article here and the Simons Searchlight summary here.
  • A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Original research article by Helsmoortel C., et al. (2014). Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

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

TIGER Study The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in ADNP. Click here to learn more about this opportunity. *This study is not affiliated with Simons Searchlight.

ADNP Research Project Registry affiliated with Dr. Kooy and Dr. Eichler Find more information about this registry here. For specific information about features seen in 12 patients with ADNP gene changes, click on “Clinical Features” on the main page. This summary of information is particularly helpful for families, researchers, and clinicians. *This study is not affiliated with Simons Searchlight.

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 ADNP families:

Click here to share your family’s story!