Cri Du Chat is a genetic disorder caused by loss or misplacement of genetic material from chromosome 5. It was first identified by Professor Lejeune in 1963 when he described it as having a distinctive cry in early infancy. It is estimated that Cri Du Chat Syndrome occurs in 1:50 000 live births.
Most people are born with 46 chromosomes. They inherit 23 from each parent. These are paired so that we have 2 of each size chromosome (1 from the mother and 1 from the father) and these are numbered with the largest being number 1.

People who are born with Cri Du Chat Syndrome have genetic material missing from the 5th largest chromosome which is called chromosome 5.

When people are born with genetic material missing it means that in most cases they will function differently from what is expected.

Most people with Cri Du Chat Syndrome have some degree of physical and learning difficulty. This varies from person to person ranging from:

Mild: Few attend mainstream school

Moderate: Many achieve a range of skills such as walking, communication and basic self help skills

Severe: Serious learning and behavioural difficulties which need a much greater level of support in their everyday lives.

The degree of disability is directly related to the amount of genetic material missing.

The typical features of Cri Du Chat are:

• Microcephaly (small head)
• Hypertelorism (apparently wide spaced eyes)
• Epicanthic folds (extra skin creases in the inner edge of the eye)
• Poor weight gain
• Feeding problems
• Developmental delay (slower at achieving milestones)
• Speech and communication problems
• Behavioural problems

There are other features which appear to be frequent in this syndrome.

Although these features are common it does not mean that every person with Cri Du Chat will have the same characteristics.

Development is delayed in many areas. In most cases walking is achieved later than the average child. Toilet training is also delayed.
People with Cri Du Chat tend to have unsteady gaits when walking and fall easily. Many children and adults are now being taught sign language to help their communication. One common version is Makaton although there are different versions now becoming popular.
In our experience people with Cri Du Chat are very happy and have a terrific sense of humour. They are sociable and very loving.

In most cases, there is no reason to suppose that a person with Cri Du Chat Syndrome cannot lead a long, happy and contented life.

Because of the various levels of disability, it is not easy to predict the future development of a person with Cri Du Chat Syndrome. Although Parents, Carers and Professionals should be aware of medical literature about Cri Du Chat, experience shows that there is a greater range of ability and potential in these children and adults than was ever before realised.