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

Medical Advisory BoardAll articles are reviewed for accuracy by our Medical Advisory Board
Educational purpose only • Exercise caution as content is pending human review
Article Review Status
Submitted
Under Review
Approved

Last updated: March 31, 2025View editorial policy

Personalize

Help us tailor your experience

Which best describes you? Your choice helps us use language that's most understandable for you.

From the Research

Cri du chat syndrome is a rare genetic disorder that requires a multidisciplinary approach to manage its symptoms, with early intervention services including physical therapy, speech therapy, and occupational therapy being essential to maximize development, as supported by the most recent study 1. The syndrome is caused by a deletion on the short arm of chromosome 5 and is characterized by a distinctive cat-like cry in infants, intellectual disability, developmental delays, low birth weight, and facial abnormalities including widely set eyes, small head size, and low-set ears. Some key features of the syndrome include:

  • Intellectual disability and developmental delays
  • Low birth weight and facial abnormalities
  • Distinctive cat-like cry in infants, which often becomes less noticeable as the child grows
  • Feeding difficulties and respiratory problems may accompany the condition Medical management may include addressing specific health issues like heart defects, and genetic counseling is recommended for families, as the condition is typically not inherited but occurs spontaneously during early development. The prognosis varies widely, with many individuals requiring lifelong support, though early intervention can significantly improve outcomes, as noted in a study on the effectiveness of speech and language intervention in addressing the multifaceted challenges of Cri du Chat Syndrome 1. Key aspects of care include:
  • Early intervention services to maximize development
  • Multidisciplinary approach to manage symptoms
  • Lifelong support and follow-up to maintain acquired skills and address ongoing health issues, as recommended in a review of care recommendations for children and adults affected by Cri du Chat syndrome 2. Overall, a comprehensive and individualized approach to care is crucial to improving the quality of life for individuals with Cri du Chat syndrome, as highlighted in recent research on the topic 1, 2.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

Have a follow-up question?

Our Medical A.I. is used by practicing medical doctors at top research institutions around the world. Ask any follow up question and get world-class guideline-backed answers instantly.