SON

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

Click here for our full SON Gene Guide

The online Gene Guide includes more information about SON such as the chance of having another child with this condition, behavior and development concerns linked to SON-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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

What is SON-related Syndrome?

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

Key Role

The SON gene helps to control different processes inside the cell.

Symptoms

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

  • Intellectual disability or developmental delay
  • Changes in the structure of the brain
  • Vision issues
  • Seizures
  • Changes in the muscles and skeleton
  • Regression
  • Lower than average muscle tone, also called hypotonia
  • Feeding difficulties
  • Short height

How many people have SON-related syndrome?

As of 2024, at least 138 people with SON-related syndrome have been identified in a medical clinic.

Learn more about the SON gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

  • Simons Searchlight Community – SON Facebook group
  • Geisinger Developmental Brain Disorder Gene Database – SON
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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.

There is currently no GeneReviews for SON-related syndrome.

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Research Article Summaries

We currently do not have any article summaries for SON, but we add resources to our website as they become available.

The information available about SON is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 SON articles can be found here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SON 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

We do not currently have any stories from SON families.

Click here to share your family’s story!