The facial features change as the child reaches adolescence with the face becoming elongated, the nasal bridge high and the epicanthic folds less distinct.  The head remains smaller than normal throughout life but is not particularly noticeable.

Many children who have Cri du Chat syndrome will experience delays in reaching developmental milestones.  However, with therapeutic intervention, most children eventually learn to crawl, walk, and eat independently.

Nearly all children with Cri du Chat also demonstrate great difficulty in developing speech, and may require some type of augmentative communication, such as sign language and electronic devices.  There has been reported success in using picture cards or boards as well.

Generally, though, individuals with Cri du Chat seem to be happy, loving, and social.  Regardless of what negative information is available, always remember that Cri du Chat does not affect the intrinsic worth of a child.  There may be limitations imposed by the syndrome, but the potential to live a fulfilling and rewarding life is immeasurable!

Problems reported in those with Cri du Chat Syndrome:

Medical problems found in a minority of children:

Additional problems which may be noticed as the child gets older:

Problems reported by parents that have not been reported as a feature of  the syndrome:

Life expectancy cannot be predicted and although a few children with serious health problems may have a reduced life-span, it is thought that most live well into adulthood. The oldest person reported to us to date was in her sixties.

In the past, doctors believed this syndrome resulted in severe to profound disability in all cases, however, early researchers like Professor Erik Niebuhr of Denmark, discovered that this is an extremely variable syndrome. The level of disability can range from very mild developmental delay to profound physical and intellectual disability. Most cases at present appear to fall into the moderate to severe range but even this is uncertain since more mild cases are being diagnosed.

The development of more sophisticated genetic testing technology has uncovered an increasing number of children who are only mildly affected  but are only now being diagnosed. They have  fewer of the features or problems usually associated with Cri du chat syndrome and those features are usually less obvious. They also have greater developmental potential than was previously thought possible for children with this syndrome.


The effects of this syndrome on the child are extremely variable but almost all children with this syndrome have a degree of intellectual disability, delayed speech and language acquisition and slow development of motor skills. Although problematic behaviors are not uncommon, they are usually bright, loving and sociable children with a great sense of humor who occupy a valued position within their families and communities.

Major developmental  issues in Cri Du Chat syndrome

No one can determine at birth how much a child will be affected by this syndrome and the best course of action for carers is to do as much as they can to maximize the child's developmental potential and provide him or her with as many opportunities to live as normal a life as possible.


Gene therapy is in its infancy and no techniques have yet been developed to treat these types of large chromosomal abnormalities. Although it is possible that some of the effects of this genetic deletion may eventually be treated by this method, it is unlikely in the near future.

Most of the medical problems can be treated successfully with current medical treatments. Early intervention programs, using a variety of therapies and educational strategies, focus on enhancing physical, intellectual, sensory and social development and have been shown to greatly improve the future outlook for the child.

Early Intervention Programs Should Include:

Since most children with the syndrome experience severe speech development problems, speech and language therapy are vital. The early introduction of alternative means of communication, including a sign language such as Makaton along with a pictorial symbol system, will enhance the child's speech development,  language acquisition and behavior. Children with Cri du Chat syndrome are usually keen to communicate and many will develop their own signs and gestures to get what they want often preferring these to the more difficult formal signs. Children who cannot communicate effectively experience a great deal of frustration and behavior problems can develop as a result.

Improving a child's ability to communicate by any means not only helps them to  make their needs known, but also helps them to develop intellectually and socially, improving the quality of their lives immeasurably.

Older children and adults who have not acquired adequate speech may benefit from using a communication device.

The level of independence a particular child achieves depends on their own inborn potential combined with the skill of those training them. Those most severely affected  require full-time care throughout their lives.  Most people with Cri du Chat syndrome are capable of achieving a degree of independent self-care but require supervision and care for life.  Some of those least affected by the syndrome are be able to live independently (or with minimal assistance) in the community.


Children with Cri du Chat syndrome in the United States attend both mainstream and special schools and pre-schools. Although full inclusion should be the goal for all children with disabilities, decisions regarding placement in either a special or mainstream educational setting must take into account the most appropriate setting for the individual child, the education policy of the local government, available support and the wishes of the family.

Most children with Cri du Chat syndrome in a mainstream setting will require a teacher's aide to assist them although a few are able to manage with minimal assistance.


Research in the past has been concentrated in the area of medical genetics with very limited investigation of the developmental and behavioral aspects of the syndrome.

Current genetic research into Cri du Chat syndrome is aimed at locating and identifying  the critical genes responsible for the various features of the syndrome. The gene locations for the cry and the other features were found to be on separate bands of the chromosome. (see Diagram 1 below)

Researchers in the field of behavior are still working to assess and describe the different aspects of development and behavior which characterize this syndrome. The long-term goal is to more accurately target the various available interventions and therapies so that our children can live up to their potential and lead happier, more fulfilling lives.

Developmental researchers have been collaborating with genetic researchers for a number of years in an attempt to define how the varying genetic combinations (genotype) occurring in this syndrome affect the development and features a particular individual displays (phenotype). This collaboration assists the geneticist to track down the location of  particular genes and identify their activity. In the future it is hoped that it will help developmental specialists to predict how severely a particular child's development will be affected. This is not possible with our current level of knowledge.

Prominent English-speaking researchers in the field include:

There are many others not named who collaborate with these researchers or work independently and many in non-English-speaking countries such as Prof. Mainardi in Italy, Prof. Kristoffersen in Norway and others in Spain, China, Japan etc.

So...what is Cri du Chat Syndrome anyway?
A few facts about Cri du Chat (Cree doo Shaw)
Characteristics of Cri du Chat Syndrome
The most distinctive characteristic, and the one for which the syndrome was originally named in 1963 by geneticist Jerome Le Jeune, is the distinctive high-pitched, monotone, cat-like cry.  "Cri du Chat" is French for "cat's cry".  Although the voice will naturally lower as the child grows, the characteristic high pitch often persists into adulthood.

In addition to the cry, there are a number of distinguishing characteristics present in infancy which aid in recognition of the syndrome. Not every child will have every feature. Those only mildly affected may have very few or they may be less obvious.

The size and location of the deletion appears to have some correlation with the severity of effect of the syndrome on the child. At present however, there is no way to determine with any accuracy how severely a particular child will be affected. All we can say at present is that those with very large deletions tend to be more severely affected and those with very small ones in and above band 15.2 tend to be more mildly affected. In general, babies with an unbalanced translocation are likely to be more severely affected.

Babies are often of low birth weight and many require help with feeding in infancy. Feeding difficulties often persist for the first few years with many experiencing reflux and swallowing problems.

Identifying characteristics
For more information,
please visit the following links:
To visit other children with CDC and their families, please use the following links:
Diagrams of 5p-
Julia's Deletion: 5p 13.0
This shows the break on the p arm of chromosome 5 that results in Cri du Chat Syndrome.  The separation in this picture is exaggerated to illustrate the breaking point
Here is a normal female karotype.
Although I am not sure how knowing this information really benefits us as parents, it is nice to have a visual picture of what is going on with our child's chromosomes.

Do not allow the breaking point of your child's chromosome to discourage you.  As you can see, Julia has one of the largest deletions that it is possible to have, and she is doing incredibly well.  There is no "cookie-cutter" prognosis for your child.  I feel that the best thing you can do is surround him or her in an atmosphere of unconditional love and acceptance, be consistent with therapies and the follow up activities they assign, offer lots of stimulation to all the senses, and have faith that God really IS in control.  This is the most awe-inspiring journey that you will ever take!