16p13.3 Deletion

Below is a summary for 16p13.3 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.

What is 16p13.3 deletion syndrome?

16p13.3 deletion syndrome happens when a person is missing a piece of chromosome 16, 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.

The size of the deletion affects the type of medical features. A small deletion results in Rubinstein-Taybi syndrome because the CREBBP gene is missing, and a large deletion results in a different condition because additional genes are missing.


People with Rubinstein-Taybi syndrome may have:

  • Intellectual disability
  • Growth problems and short height
  • Behavior issues
  • Changes in facial features and the hands and feet

People with a large deletion in the 16p13.3 region may have:

  • Feeding difficulties
  • Heart or kidney defects
  • Frequent infections
  • Developmental delay
  • Intellectual disability
  • Failure to thrive
  • Low muscle tone

Do people who have 16p13.3 deletion syndrome look different?

People with 16p13.3 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Short height
  • A small head, also called microcephaly
  • Facial features that are different from those of other family members
  • Wide thumbs that may be positioned differently on the hand
  • Big first toes

How many people have 16p13.3 deletion syndrome?

Because of the different breakpoints that are possible in the 16p13.3 region, it is difficult to know how many people have a 16p13.3 deletion.


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.

There is currently no GeneReviews for 16p13.3 Deletion.


Research Article Summaries

We currently do not have any article summaries for 16p13.3 Deletion, but we add resources to our website as they become available.

The information available about 16p13.3 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 16p13.3 Deletion articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about 16p13.3 Deletion 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

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