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