This fact sheet provides information about Cri du chat Syndrome, its frequency, its signs and symptoms and treatment options.

Cri du chat Syndrome title

Cri du chat syndrome is a genetic condition, and is sometimes referred to as 5p- (5p minus) syndrome or cat’s cry syndrome. It is characterised by a high-pitched cry, intellectual disability, and delayed development. The cause of cri du chat syndrome is a problem with a gene on chromosome 5.

Frequency

The exact incidence of cri du chat syndrome is not known, it is estimated to be approximately 1 in 20, 000 to 50, 000 newborns

Signs and Symptoms

Symptoms in a newborn:

  • Intellectual disability
  • Delayed development
  • Small head size
  • Wide spaced eyes
  • Low birth weight
  • Weak muscle tone in infancy
  • High pitched cry due to abnormal development of the larynx

Medical problems associated with cri du chat syndrome:

  • Difficulties feeding
  • Gastric reflux
  • Constipation
  • Increased infections, such as upper respiratory tract infections
  • Eye problems, such as a squint (strabismus)

Less frequent problems associated with cri du chat syndrome

  • Hearing loss
  • Skeletal deformities
  • Hernias
  • Heart and kidney issues

Treatment

There is no specific treatment for cri du chat syndrome. Some areas of management include:

  • Physical therapy to improve muscle tone
  • Speech and communication therapy
  • Occupational therapy to help with coping strategies and new skills

References

Cri Du Chat Syndrome. (2019). Retrieved from

 https://rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome

Cri Du Chat Syndrome. (2019). Retrieved from

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/cri-du-chat-syndrome?viewAsPdf=true

Cri Du Chat Syndrome. (2019). Retrieved from

https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome#diagnosis