What is cri du chat syndrome?

Cri du chat syndrome is a rare genetic disorder caused by a missing piece of chromosome 5.

The severity of the symptoms will depend on how much genetic information is missing from the chromosome. Some children will be only mildly affected, while others are more severely affected.

It’s called cri du chat because of the strange, high-pitched cry often made by newborns with this condition. It is French for ‘cry of the cat’. Other names for the condition include:

• 5p syndrome
• 5p minus syndrome
• cat’s cry syndrome
• CdCS
• Lejeune syndrome

Cri du chat syndrome causes delayed physical development, a small head size and intellectual disability.

What are the symptoms of cri du chat syndrome?

The symptoms of cri du chat syndrome vary among different people. This may be related to the size of the deletion (missing part) on the chromosome.

Most babies with cri du chat syndrome have:

• a weak, high pitched cry that sounds like a cat when very young
• microcephaly (a small head)
• distinctive facial features
• widely spaced eyes
• sucking and feeding difficulties
• low or abnormally shaped ears

Children with cri du chat syndrome might also have:

• scoliosis (curved spine)
• speech and language impairment
• delayed walking or problems with walking
• intellectual disability, ranging from mild to severe

Some babies with cri du chat syndrome are born with other serious congenital problems. These may affect their brain, heart, kidneys or bowel.

What causes cri du chat syndrome?

Cri du chat syndrome is caused by a deletion (missing part) of the short-arm of chromosome 5. Chromosomes carry your genetic information.

Most cases of cri du chat syndrome are not inherited.

Cri du chat syndrome is very rare. It’s found in about 1 in every 30,000 newborn babies. It tends to affect females more often than males.

When should I see my doctor?

The syndrome is usually diagnosed at birth, with doctors alerted by the distinctive cry.

How is cri du chat syndrome diagnosed?

Cri du chat syndrome can be diagnosed either prenatally (before birth) or postnatally (after birth).

Characteristics of cri du chat syndrome may be seen before birth on ultrasound.

After birth, your doctor will arrange tests if your baby has any signs suggesting cri du chat syndrome.

Your doctor may also suggest genetic counselling and that you consider having genetic testing. Most of the time, cri du chat syndrome is not inherited.

How is cri du chat syndrome treated?

There is no specific treatment for cri du chat syndrome. Treatment will depend on the physical and intellectual needs of your child.

Your child will usually be treated by a team that includes a paediatrician (children’s doctor).

Early childhood intervention can help. This might include:

• speech and language therapy
• occupational therapy
• physiotherapy

The development of social and intellectual ability can be encouraged by early special schooling and a supportive home environment.

Surgery may be needed to correct some features, such as hernias or heart defects.

Living with cri du chat syndrome

Most people with cri du chat syndrome survive well into adulthood.

If you have a child with cri du chat syndrome, it’s a good idea to see a genetic counsellor.

Can cri du chat syndrome be prevented?

Cri du chat syndrome is a chromosomal disorder, so can't be prevented.

Complications of cri du chat syndrome

Because of the head and face abnormalities, pneumonia is more common in people with cri du chat syndrome.

Resources and support

Cri du Chat Support Group of Australia provides support and information for parents and families.

You may be able to apply for financial support from the National Disability Insurance Scheme (NDIS) if your child has cri du chat syndrome.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.