5q35 Deletion
The information for this summary of 5q35 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 5q35 Deletion Gene Guide
The online Gene Guide includes more information about 5q35 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 5q35 deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
5q35 deletion syndrome is also called Sotos syndrome. For this webpage, we will be using the name 5q35 deletion syndrome to encompass the wide range of variants observed in the people identified.
What is 5q35 deletion syndrome?
5q35 deletion syndrome happens when a person has a missing 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.
This condition is caused by either a deletion that includes the NSD1 gene or a damaging genetic variant in the NSD1 gene.
Key Role
Genes within the 5q35 region are important for brain development and function.
Symptoms
Because genes in the 5q35 region are important in brain development and function, many people who have 5q35 deletion syndrome have:
- Developmental delay
- Intellectual disability
- Language delay
- Seizures
- Coordination problems
- Behavioral issues
- Kidney tumor, called a Wilms tumor
- Advanced bone age
- Taller than average height
- Larger than average head size
- Ear infections and hearing loss
- Heart defects
- Joint issues
- Sideways curve of the spine, also called scoliosis
- Brain changes seen on magnetic resonance imaging (MRI)
How many people have 5q35 deletion syndrome?
As of 2025, at least 900 people with a damaging genetic variant in the NSD1 gene or a 5q35 deletion have been described in medical research. 5q35 deletion syndrome happens in about 1 in every 14,000 births.
Support Resources
- Simons Searchlight Community – 5q35 Deletion Facebook group
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.
Sotos syndrome (the GeneReviews linked below) is caused by an NSD1 abnormality, and this gene is usually affected in 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
We do not currently have any stories from 5q35 Deletion families.
Click here to share your family’s story!