5p Deletion
The information for this summary of 5p deletion syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 5p Deletion Gene Guide
The online Gene Guide includes more information about 5p deletion such as the chance of having another child with this condition, behavior and development concerns linked to 5p deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
5p deletion syndrome is also called Cri-du-chat syndrome. For this webpage, we will be using the name 5p deletion syndrome to encompass the wide range of variants observed in the people identified.
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What is 5p deletion syndrome?
5p deletion syndrome happens when a person has an extra 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.
People with 5p deletion syndrome tend to have their own unique set of breakpoints. This means that there is large variability between each person’s genetic region and their medical features.
Symptoms
Because genes in the 5p region are important in brain development and function, many people who have 5p deletion syndrome have:
- Developmental delay
- Intellectual disability
- Speech delay
- Hearing loss
- Brain changes seen on magnetic resonance imaging (MRI)
- Heart defects at birth
- Attention-deficit/hyperactivity disorder (ADHD)
- Autism
- Aggressive behaviors
- Low muscle tone
- Stiff walking
- A tendency to hurt themselves
- Feeding issues and constipation
- A high-pitched cry that might sound like a cat
How many people have 5p Deletion syndrome?
As of 2026, over 500 people with 5p deletion syndrome have been described in medical research. Cri-du-chat syndrome happens in about 1 in 15,000 to 1 in 50,000 births.
Support Resources
- Simons Searchlight Community – 5p Deletion Facebook group
- Cri Du Chat Research Foundation website – CriDuChatResearch.org
– Cri Du Chat Research Foundation – Facebook page
– Cri Du Chat Research Foundation – Twitter
– Cri Du Chat Research Foundation – Instagram @criduchat_research - Five P Minus Society website – fivepminus.org
- Cri Du Chat 5p Society – 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.
There is currently no GeneReviews for 5p Deletions.
Research Article Summaries
We currently do not have any article summaries for 5p Deletion, but we add resources to our website as they become available. The information available about 5p 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.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about 5p 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 5p Deletion families.
Click here to share your family’s story!
Previous Quarterly Reports