Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome
Definition of Cri du chat syndrome
Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat.
Causes, incidence, and risk factors
Cri du chat syndrome is rare. It happens when genetic information on chromosome 5 is missing. One missing piece, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of this syndrome develop.
Signs and tests
In addition to symptoms, the physical examination may show:
No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.
What can be expected varies, but mental retardation is usual. Half of children with Cri du chat syndrome learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 8/26/2009