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.

Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome

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.

Most cases are believed to occur during the development of the egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation and passing this on to the baby.

This syndrome may account for up to 1% of individuals with severe mental retardation.

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Cri du chat syndrome Symptoms

Review Date: 08/26/2009
Reviewed By: 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)