What is Cri du Chat syndrome?
Cri du Chat syndrome (CdCS) is a genetic disorder that can cause health problems and intellectual disability.
‘Cri du Chat’ is French and translates as ‘Cry of the Cat’. This describes the typical cat-like cry that children with the syndrome make.
Cri du Chat is caused by a missing piece of chromosome 5. It’s sometimes called 5p- (5p minus) syndrome.
It usually happens by chance, but in 10-15% of cases it’s inherited. If you have a child with Cri du Chat syndrome, you can choose to have your own chromosomes tested if you’re thinking of having more children.
The syndrome is rare and happens in around 1 in 25 000-50 000 births. It’s more common in girls, and about a third more girls than boys are affected.
Signs and symptoms of Cri du Chat syndrome
The most obvious physical sign of Cri du Chat syndrome is a cat-like cry in infancy. This is caused by problems in the baby’s larynx and nervous system. A third of children lose the cry by the time they’re two years old.
Other common physical signs and symptoms might include:
- feeding problems because of difficulty swallowing and sucking
- low birth weight and poor physical growth
- lots of drooling
- wide-apart eyes
- skin tags in front of the eyes
- low muscle tone
- skin folds covering the inner corner of the eyes
- eyes looking in different directions (squint)
- small jaw
- low-set ears
- short fingers
- lines that run across the palms (single palmar creases).
Less common symptoms include hearing loss and deformities of the skeleton.
Children with Cri du Chat syndrome usually have some motor delay, especially in walking. Some children walk as early as two years, but others can take up to six years because of low muscle tone. Some might never walk.
Children with Cri du Chat syndrome can have mild to profound intellectual disability. This can range from mild speech delay to profound intellectual disability.
Some children might never be able to talk. Children with Cri du Chat are usually better at understanding what people say to them than they are at talking.
Children with Cri du Chat syndrome can have behaviour problems that might include:
- repetitive movements.
Medical concerns linked with Cri du Chat syndrome
Children with Cri du Chat syndrome can have other medical concerns, including heart problems, hernias, kidney problems and gastric reflux.
Most children with Cri du Chat syndrome have a bright temperament, show love and affection, and are socially engaging.
Diagnosis and testing for Cri du Chat syndrome
Health professionals can diagnose Cri du Chat syndrome based on the syndrome’s distinctive cry. They also look for the physical signs and problems that usually come with the cry. The syndrome can be confirmed using genetic testing.
Early intervention services for children with Cri du Chat syndrome
Although there’s no cure for Cri du Chat syndrome, early intervention can make a difference. Through early intervention services, you can work with health professionals to treat your child’s symptoms, support your child, improve outcomes for your child and help him reach his full potential.
The team of professionals involved in supporting you and your child might include paediatricians, physiotherapists, audiologists, speech pathologists, occupational therapists and special education teachers.
Together, you and your team can choose treatment and therapy options to best help your child.
Services and support for children with Cri du Chat syndrome
Learning as much as possible from your specialists will help. It’s OK to ask lots of questions.
Many services and supports can help your child with Cri du Chat syndrome achieve her potential. But finding your way through the disability services system can be tricky. Our Disability Services Pathfinder can help.
If you live in a National Disability Insurance Scheme (NDIS) trial area and your child has a confirmed diagnosis of Cri du Chat syndrome, your child can get support under the NDIS. The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.
If you don’t live in one of the NDIS trial areas, your child can get funding under the Better Start for Children with Disability initiative. If your child is eligible for the NDIS, he’ll be moved over when it becomes available in your area. Read our NDIS and Better Start FAQs for more information.
Looking after yourself and your family
If your child has Cri du Chat syndrome, it’s easy to get caught up in looking after her. But it’s important to look after your own wellbeing too. If you’re physically and mentally well, you’ll be better able to care for your child.
If you need support, a good place to start is with your GP and genetic counsellor. You can also get support from organisations like Genetic Alliance Australia.
Looking after siblings
Siblings of children with disability have good times and not so good times, just like everyone else. It’s important to find the right support for them too.