Each year in the United States, approximately 50 to 60 children are born with Cri Du Chat Syndrome, also known as Cat Cry Syndrome or 5p Minus Syndrome.

A young child playing with sand in front of a table with various stickers and drawings, near a small white container and a metallic bowl.

What is Cri du Chat Syndrome?

5p- Syndrome, also known as Cri du Chat Syndrome, is more common than many realize. It occurs in approximately 1 in 15,000 to 1 in 50,000 individuals. Though classified as a rare disease, it is actually the most common contiguous gene deletion disorder. New cases are identified every week.

To date, over 2,000 individuals have been diagnosed worldwide, with approximately 1,100 of those in the United States. However, these numbers are believed to be significantly underestimated—5p- Syndrome continues to be underdiagnosed globally.

Cri du Chat syndrome gets its name from the distinctive high-pitched, cat-like cry many affected infants have at birth. Other early signs can include low birth weight, poor muscle tone, a small head size, and unique facial features.

Key Facts

  • Frequency: 1 in 15,000–50,000 live births

  • Names: Cri du Chat, 5p- syndrome, Cat Cry syndrome

  • Cause: Missing genetic material on the short arm of chromosome

FAQs

  • Symptoms and their severity can vary, but may include:

    • High-pitched, cat-like cry in infancy

    • Low birth weight and poor muscle tone

    • Delayed growth and development

    • Distinctive facial features (small jaw, wide-set eyes, low-set ears)

    • Feeding and walking difficulties

    • Intellectual disability and speech delays

    • Learning differences and behavioral challenges

    Most children require ongoing support from families, therapists, and educators. With early intervention and therapy, many can reach their fullest potential and lead happy, meaningful lives

  • Because Cri du Chat syndrome is rare, research is vital to:

    • Improve diagnosis and care

    • Develop new therapies for symptoms

    • Support families and communities

    • Advance understanding of related genetic conditions

    Every breakthrough brings hope for better outcomes and greater independence for those affected.

  • A deletion (missing piece) on the short arm of chromosome 5, usually occurring randomly during early development.

  • Most cases are not inherited; they happen as a random genetic event

  • There is currently no cure, but early intervention with physical, speech, and occupational therapy can greatly improve outcomes

  • Most individuals can expect a normal life span, though some may have serious medical issues at birth.

  • Connect with organizations like CDCRF, genetic counselors, and support groups for information, resources, and community.

Learn More

Contact Us for support or visit our [Research] page to see how you can help advance progress for families affected by 5p- syndrome.