SON

Below is a summary for the SON gene observed in research publications. This is not meant to take the place of medical advice.

What is SON-related Syndrome?

SON-related syndrome happens when there are changes to 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 in the development and function of brain cells, many people who have SON-related syndrome have:

  • Intellectual disability or developmental delay
  • Changes in the structure of the brain
  • Vision issues
  • Seizures
  • Changes to the muscles and skeleton

Do people who have SON-related syndrome look different?

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

  • Facial asymmetry, meaning one half of the face is not the mirror image of the other
  • Low-set ears
  • Deep-set eyes
  • Horizontal eyebrows
  • Wide nasal bridge
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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.

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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.

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Family Stories

We do not currently have any stories from SON families.

Click here to share your family’s story!