Cri du Chat Syndrome
What is cri du chat syndrome?
Cri du chat syndrome, which is also known as “5p minus syndrome” or “cat cry syndrome,” is a rare genetic condition that is characterized by a high-pitched cry (that sounds like that of a cat) in affected individuals. In addition to this cry, a series of other problems and developmental delays are also associated with this condition.
What causes cri du chat syndrome?
Cri du chat syndrome is caused by an abnormal deletion of the end of the short arm of chromosome 5. The size of this particular deletion varies among the affected individuals, but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller ones.
Even though cri du chat syndrome is a genetic condition, most cases of the disease are not inherited, but rather, spontaneously occur for unknown reasons.
What are the symptoms of cri du chat syndrome?
As noted above, the characteristic symptom of cri du chat syndrome is a cat cry noise and a high pitched voice in affected individuals. Along with this, the following symptoms are also common:
- Severe intellectual disability or psychomotor disability
- Low-set, rotated ears
- Smaller-than-average head
- Decreased muscle tone and associated feeding difficulties
- Round face
- Severe global developmental delay
How is cri du chat syndrome diagnosed?
In newborns, a cri du chat syndrome diagnosis is made using a thorough clinical evaluation, and identification of the characteristic symptoms of the condition, most notably, the cat cry, and chromosomal studies that can reveal the deletion on chromosome 5.
To confirm a diagnosis, a specific clinical test, called a fluorescence in situ hybridization (FISH) test, may be used.
What are the available treatments for cri du chat syndrome?
There is not a specific treatment nor cure currently available for cri du chat syndrome, so treatment is symptomatic and supportive. For this reason, early intervention is key, so physical therapy, speech therapy, behavioral therapy, and special education can provide the most profound benefits.
If severe complications are present in a patient, such as congenital heart defects, scoliosis, and/or cleft palate and cleft lip, corrective surgery may be recommended.
With supportive treatment, patients with cri du chat syndrome will usually have a normal, happy, and healthy life.
Where can I find more information on cri du chat syndrome?