Cri-Du-Chat

Also known as the Crying Cat Syndrome

The Basics

In 1963, geneticist Jerome Lejeune, who had also discovered the extra chromosome linked to Down Syndrome, was the first to recognize the disorder of Cri-Du-Chat, commonly referred to as the Cat's Cry for the high pitched cry caused by infants who posses the disorder. Cri-Du-Chat is categorized as a chromosomal abnormality because its defined as a chromosomal condition when a part of chromosome 5 is missing, which it's caused from, it also affects facial features and causes a high pitched cry. Disorders are commonly recessive, dominant, or sex-linked. Cri-Du-Chat is a rare occasion in which because it occurs randomly, it doesn't belong to any of the categories of those traits. Although the disease is occurs in both males and females, females are more susceptible to the Cri-Du-Chat. Cri-Du-Chat is not known to occur because of environmental factors or influences. The known likeness of getting the disease is 1 in 20,000 to 1 in 50,000. Making Cri-Du-Chat a rare disease to obtain. Diagnostic tests determine where or not a patient has Cri-Du-Chat include tests such as Fluorescence in situ hybridization (FISH) which is a method of charting the genetic material whilst the child is still in the womb. This is used to see the chromosomes and watch out for any mutations, such as deletion in part of the fifth chromosome. A multitude of organizations exist to help individuals and their families, they include The Arc, 5P-Society, March of Dimes, Cri-Du-Chat Syndrome Support Group, and Chromosome Disorder Outreach, Inc. There is no known cure for Cri-Chu-Chat, but family support allows patient to feel normality in their life.

More in Depth With Cri-Du-Chat

When the disease is diagnosed to the child, usually before birth, what's to expect of the future of the child? To begin, in any disease, life span will be questioned. Many diseases will be fatal, others will not. Cri-Du-Chat, for example, is not fatal. The recorded oldest person with Cri-Du-Chat was 60 years old. But, there are serious health problems that follow Cri-Du-Chat.

-Intellectual problems take a major role in the lives of children with Cri-Du-Chat, shown problems can be a decrease in speech development, self abusive behavior, difficulties with feeding, and hyperactivity.


-The name is derived from the symptom of an infant with the disease that cries in a high pitched tone, hence the Cry of the Cat.


-Facial features are greatly affected, such as the eyes being widely space apart, the jaw is smaller, and a plump face. The patient can also experience webbing of the fingers and toes.


Although there is no known cure or prevention of the disorder, treatment is possible and varies for different needs, such as therapy and support groups. A multitude of therapies exist such as physiotherapy to help with the low muscle tone and occupational therapy to aid the patient to reach their full potential. Family support also is a big assist in allowing the child with Cri-Du-Chat to be a normal kid.

The cure for Cri-Du-Chat is still in progress, but you can visit http://www.fivepminus.org/ for updates and for events taking place for Cri-Du-Chat.