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Cri du chat syndrome

6-minute read

Key facts

  • Cri du chat syndrome is a rare genetic disorder affecting chromosome 5.
  • Cri du chat syndrome is also called 5p syndrome, 5p minus syndrome and cat cry syndrome.
  • Most babies with cri du chat syndrome have a weak, high-pitched cry that sounds like a cat.
  • There is no specific treatment for cri du chat syndrome, but early childhood intervention can help.

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:

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.

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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:

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.

Learn more here about the development and quality assurance of healthdirect content.

Last reviewed: March 2024


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Cri du chat syndrome - Better Health Channel

Most children born with cri du chat syndrome have moderate intellectual disability, with varying degrees of speech delay and some health problems.

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Cri du Chat syndrome in children: a guide | Raising Children Network

Cri du Chat syndrome is a genetic disorder that causes health problems and intellectual disability. Early intervention can help children with Cri du Chat.

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Microcephaly: symptoms, diagnosis, support | Raising Children Network

Children with microcephaly have smaller than usual heads and brains. They often have intellectual disability. Early intervention can improve quality of life.

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