This fact sheet provides information about Cri du chat Syndrome, its frequency, its signs and symptoms and treatment options.
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
Cri Du Chat Syndrome. (2019). Retrieved from
https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome#diagnosis
