What is cri du chat syndrome?

Cri du chat syndrome is a rare genetic disorder that causes delayed physical development, a small head size and intellectual disability.

Some children will be only mildly affected; in others, the condition is more severe. All children are different.

Most children with cri du chat syndrome have:

• a weak, cat-like cry when very young
• intellectual disability, ranging from mild to severe
• a small head (known as microcephaly)
• a small receding chin
• widely spaced eyes
• weak muscles

Children with cri du chat syndrome might also have:

• feeding difficulties
• speech and language impairment
• delay in or problems walking
• eye problems
• deformities of the skeleton, such as a curved spine
• dental problems
• hyperactivity or challenging behaviour

A few babies with cri du chat syndrome are born with other serious congenital problems that affect their heart, kidneys or bowel. Other babies are only slightly affected and reach their normal developmental milestones.

Cause of cri du chat syndrome

A child with cri du chat syndrome lacks some genetic information on chromosome 5. (Chromosomes are the microscopic parts of the human body’s cells that carry genetic information.) Other names for the condition include 5p syndrome, 5p minus syndrome and cat cry syndrome. Doctors don’t know why it occurs.

Sometimes, testing will show that a child with cri du chat syndrome has a parent with some form of chromosomal abnormality. But most of the time, the abnormality is not inherited. If you have a child with cri du chat syndrome, it is still a good idea to see a genetic counsellor.

Cri du chat syndrome diagnosis

The syndrome is usually diagnosed at birth, with doctors alerted by the distinctive cry. A doctor will examine the baby, talk to the parents and do some genetic tests. The child may also need a skull x-ray.

Cri du chat syndrome treatment

The right medical treatment and early intervention therapies can help. The particular treatment depends on what physical and intellectual problems your child has.

The child will usually be treated by a team that includes a paediatrician and allied health professionals.

Early intervention that can help your baby or child reach their full potential might include:

• speech and language therapy
• occupational therapy
• physiotherapy
• special education
• behaviour management

Children with a confirmed diagnosis of cri du chat syndrome can get support from the National Disability Insurance Scheme (NDIS).

Where to go for help

• Find out more here about early intervention and financial support for children with cri du chat syndrome.
• Cri du Chat Support Group of Australia provides support and information for parents and families.