Stephen J. Schueler, M.D.

Overview Symptoms

Cri Du Chat Syndrome Overview

What is Cri du chat syndrome?
An infant with Cri du chat (cat's cry) syndrome has a rare genetic disorder that occurs when there is a missing piece of chromosome number 5. The name of this syndrome is based on the infant's cry, which is high-pitched and sounds like a cat. Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds. Cri du chat syndrome is not inherited, but occurs often as a random event during the formation of egg or sperm cells. So it's not surprising that affected people typically have no history of the disorder in their family.

What are the symptoms of Cri du chat syndrome?
Symptoms of Cri du chat syndrome include low birth weight, slow growth, a cry that is high-pitched and sounds like a cat, a downward slant to the eyes, small head, abnormally shaped ears, mental retardation, partial webbing or fusing of fingers or toes, single line in the palm of the hand, skin tags in front of the ears and slow or incomplete development of motor skills. Other symptoms include fussy infant and poor feeding in infants.

How does the doctor treat Cri du chat syndrome?
There is no specific treatment for Cri du chat syndrome. Parents of a child with this syndrome may benefit from counseling. A karyotype test is also recommended for the parents to determine if one of them has a rearrangement of chromosome 5.

Continue to Cri Du Chat Syndrome Symptoms

Last Updated: Jun 17, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Cri Du Chat Syndrome References
  1. Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006 Sep 5;1:33. [16953888]
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