5p Deletion

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

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What is 5p deletion syndrome (Cri-du-chat syndrome)?

5p 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. 5p deletion syndrome is also called Cri-du-chat syndrome, or cat’s cry syndrome.

The size of a 5p deletion can vary. People with larger-than-average deletions may have more medical complications than those with deletions that are smaller than average.

Symptoms

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

  • Intellectual disability
  • Speech delay
  • Hearing loss
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Heart defects at birth
  • Attention deficit hyperactivity disorder, also called ADHD
  • Autism
  • Aggressive behaviors
  • Stiff walking
  • Tendency to hurt themselves 
  • Feeding issues and constipation
  • High-pitched cry that might sound like a cat

Do people who have Cri-du-chat syndrome look different?

People with Cri-du-chat syndrome may look different. Appearance can vary and can include, but are not limited to, these features:

  • Lower than average muscle tone
  • Smaller than average head size and height
  • Misaligned teeth
  • Smaller than average jaw size
  • Wide-set eyes

How many people have Cri-du-chat syndrome?

Cri-du-chat syndrome occurs in about 1 in 15,000 to 1 in 50,000 births.

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Support Resources

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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.

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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.

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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.

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Family Stories

We do not currently have any stories from 5p Deletion families.

Click here to share your family’s story!

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