Cri-Du-Chat Syndrome

By: Jeremy Stahl

Introduction

Cri-du-chat syndrome is a chromosome abnormality found in humans. This disease is caused by a variable portion of chromosome number 5 is deleted, or missing. The disease is a genetic error discovered by Jerome Leujeune in 1963.


The picture at right shows the word Cri-Du-chat

Symptoms and Side effects

The first symptom occurs just a few days after birth causing a high pitched cry sounding like a mewing cat. Thus becomes less emphasized as the child grows older. Children also have a low birth weigh, lack of muscle tone, and a head circumference seemingly small for the child's age and sex. Children also struggle with feeding themselves due too lacked muscle and poor suck.


This photo (At left) shows a baby with Cri-Du-chat. The child has a small head circumference, a cleft lip, and oval eyes.

Inheritance

Cri-Du-Chat is not inherited and occurs spontaneously in the early stages of embryo for unknown reasons.this disease has affected over 45,000 birth of children. Cri-Du-chat is located on the short arm of chromosome number 5. It is a chromosome deletion first discovered in 1963 by Jerome Lejeune. Cri-Du-chat has been known to effect females more than males in most cases. This disease got its name because "Cri-Du-chat" means "cry of a cat"


At right is a picture of the short arm of chromosome number five missing.

Testing

Cri-Du-Chat is confirmed through clinical evaluation, and chromosomal studies. A test known as the FISH test has been said to confirm the disease as Cri-Du-chat. Sometimes the disease doesn't go diagnosed making it difficult to know the degree of effect of the disorder on a particular patient.


This photo is a test being run to diagnose the disease Cri-Du-chat

Prevention

Surgeries can be preformed on patients to help with heart defects, scoliosis, club foot, cleft palate, and cleft lip. Therapies include the patients staying in a home environment, early schooling, and a supportive home life. These types of therapies showed that patients can communicate well even with Cri-Du-chat


A yellow ribbon used to raise awareness for Cri-Du-chat is depicted at left.

Support Groups

The 5 minus (5P society) is a support group for patients with Cri-Du-chat. They develop help for the following problems. Gross and motor skills, speech and language delays, poor muscle tone, low birth weight, and normal life expectancy.


The 5P society logo is shown at the right.