What is Cri Du Chat Syndrome?

Cri du Chat syndrome is a disorder resulting from deletion of key elements of Chromosome five. It gets its name, which translates as "cry of the cat" or "cat-cry," from the way babies who have this condition frequently sound when they cry. The cry is the least of concerns in Cri du Chat, and greatest concern exists regarding degree of intellectual impairment, which may accompany this condition. Also, there can be other structural abnormalities present that pose a challenge.

The main features of Cri du Chat syndrome can often be diagnosed shortly after birth. Infants with this chromosomal condition often have an unusually small head, called microcephaly. They tend to be smaller than average and have recognizably similar facial features. Infants with this condition frequently have poor muscle tone that is also less than average. Other times there are additional defects present, and some babies will have heart defects.

As a child with Cri du Chat syndrome develops, questions about intellectual development and learning skills begin to be answered. Children with severe retardation may never be able to speak, and others have milder forms of developmental delays but can participate more fully in life. The degree to which mental retardation affects kids with this disease can vary significantly, and it’s usually not possible to tell in advance what the prognosis is for an individual child.

Given the range of abilities or disabilities present with this condition, discussing treatment can be challenging. Should heart defects be present these might be repaired. Occupational therapy and other therapies could be used to stimulate better muscle tone and intellectual development. In places like the US, there may be free programs like SELPA, to begin therapy for infants with Cri du Chat.

Many people are interested in knowing how Cri du Chat syndrome develops. In most cases the condition is not inherited but could be viewed as a chromosomal mishap. This means there is no way for anyone to guard against the condition, though chromosomal testing might identify it early in a pregnancy. Even though the disease is thought mostly an accident of nature, people who have a familial relationship with someone with Cri du Chat are usually advised to get help from a genetic counselor before having children.

It should be known that Cri du Chat syndrome is a very rare genetic problem. Probability of its occurrence is about .005% to .002% in the general population, and it doesn’t seem to affect one race or ethnic group with greater likelihood. Even though the condition is rare there are a variety of support groups available to people parenting kids with Cri du Chat, and these may be of use in coping with the challenges these children and their families face.