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 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.
This is a illustration of 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 typical features of Cri Du Chat are :
Microcephaly (small head)
Hypertelorism (widely spaced eyes)
Epicanthic folds (extra skin creases in the inside of their eyes)
Poor weight gain
Feeding problems
Developmental delay (slower in achieving milestones)
Speech and communication difficulties
Behavioural difficulties
Premature greying of hair
There are other feature which appear to be frequent in this syndrome.
Although these features are common it does not mean that each person with Cri Du Chat will be like this.
Development is delayed in many areas with in most cases walking being 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 my experience people with Cri Du Chat are very happy and have a terrific sense of humour. They are sociable and very loving (too much sometimes!!!)
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 Perents,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.
Other useful sites:
It is not taken from text books or other sites.
I would like to acknowledge the Cri Du Chat Syndrome Support Group for my understanding of this syndrome