16p13.3 Deletion
The information for this summary of 16p13.3 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 16p13.3 Deletion Syndrome Gene Guide
The online Gene Guide includes more information about 16p13.3 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 16p13.3 deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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. A large deletion results in a different condition because additional genes are missing.
Key Role
Genes within the 16p13.3 region are important for brain development and function.
Symptoms
People with Rubinstein-Taybi syndrome may have:
- Developmental delay
- Intellectual disability
- Growth problems, such as short height or a smaller than average head size
- Hearing loss
- Upper airway infections
- Feeding difficulties
- Autism
- Seizures
- Speech delay
- Risk for tumor formation, especially in the head
- Risk for leukemia
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
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 16p13.3 deletion syndrome.
Support Resources
- Simons Searchlight Community – 16p13.3 Deletion Facebook group
- Unique – 16p13.3 Deletions Guidebook
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 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
We do not currently have any stories from 16p13.3 Deletion families.
Click here to share your family’s story!