5q35 Deletion

Below is a summary for 5q35 deletion syndrome or Sotos syndrome observed in research publications. This is not meant to take the place of medical advice.

What is 5q35 deletion syndrome or Sotos syndrome?

5q35 deletion syndrome happens when a person is missing a piece of chromosome 5, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.

5q35 deletion syndrome is also called Sotos syndrome. This condition is caused by a deletion in the NSD1 gene, which is missing when a person has a 5q35 deletion.


Because the 5q35 region is important for the proper function of the body’s cells, some people may have:

  • Ear infections and hearing loss
  • Heart structure issues
  • Joint issues
  • Developmental delay
  • Intellectual disability
  • Language delay
  • Seizures
  • Coordination problems
  • Behavior issues
  • Kidney tumor, called a Wilms tumor
  • Advanced bone age

Do people who have 5q35 deletion syndrome look different?

People with 5q35 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Larger than average head size
  • Early appearance of teeth
  • Rapid eye movements
  • Brittle fingernails
  • Red cheeks, also called malar flushing
  • Noticeable forehead
  • Long narrow face and chin
  • Thinning hair in the front

How many people have Sotos syndrome?

As of 2022, at least 280 people with Sotos syndrome have been described in the medical research. Sotos syndrome happens in about 1 in every 14,000 births.


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.

Sotos syndrome (the GeneReviews linked below) is caused by an NSD1 abnormality, and this gene is usually affected by a 5q35 microdeletion.

Check out the GeneReviews for Sotos syndrome.


Research Article Summaries

We currently do not have any article summaries for 5q35 Deletion, but we add resources to our website as they become available.

The information available about 5q35 Deletion 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 5q35 Deletion articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 5q35 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

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