Cri-du-chat (cat’s cry) syndrome is a rare disorder that causes issues with an infant’s growth and development. Some characteristics of the condition include a distinct cry that sounds like a meowing kitten, a small head size, and facial abnormalities.

It first appeared in literature in 1963 when Dr. Jerome Lejeune named the disorder after its most distinctive feature. “Cri du chat” is a French phrase that translates to “cry of the cat.”

Cri-du-chat syndrome is considered rare, appearing in 1 in every 15,000–50,000 live births. However, it is one of the most common chromosomal disorders.

This article discusses cri-du-chat syndrome, its symptoms, causes, and more.

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Cri-du-chat syndrome is a chromosomal deletion syndrome. It occurs when some portion of the short arm of chromosome 5 (5p) is missing. Hence, people also call it 5p- (5p minus) syndrome.

Other terms for the condition include:

  • cat’s cry syndrome
  • CdCS
  • Lejeune syndrome

The symptoms of cri-du-chat syndrome vary among individuals. This variability may relate to the size of the missing genetic material.

Healthcare professionals often diagnose the condition at birth. Symptoms such as the namesake cry may appear during an infant’s first few weeks, but other signs may be present at birth.

The most distinct characteristic of cri-du-chat syndrome is a high pitched cry resulting from anatomical changes in the larynx. This symptom is typically present soon after birth and disappears within the first few months. Not all infants with the condition present with this cry.

Affected infants may also have low birth weight and low muscle tone (hypotonia).

Distinct facial features associated with the condition include:

  • rounded face (moon face)
  • microcephaly (small head)
  • broad nasal bridge
  • eyes wide apart (hypertelorism)
  • downward-slanting eye folds
  • skin folds covering the inner corner of the eyes (epicanthal folds)
  • low set ears
  • misalignment of the teeth (malocclusion)
  • small jaw (micrognathia)
  • small philtrum (area between nose and lip)
  • crossed eyes (strabismus)
  • cleft palate and cleft lip
  • uvula split in two (bifid uvula)

Developmental signs

An individual with cri-du-chat may also show delays in mental and physical development, but about half of children with cri-du-chat are able to dress independently by age 5 years.

Some will be able to walk as early as 2 years, but others may only learn to walk by age 6 years due to hypotonia. In some cases, children with cri-du-chat syndrome are never able to walk.

Low muscle tone and gastroesophageal reflux disease may lead to feeding difficulties. An older study suggested that half of infants with the condition may be able to feed themselves with a spoon by 3.5 years of age.

While born hypotonic, children may become hypertonic (high muscle tone) as they grow older. Their moon face also changes and becomes more long and narrow.

Cognitive signs

Cri-du-chat can cause moderate to severe intellectual disability.

Children also show delayed speech development, but around half will acquire enough verbal or nonverbal skills to communicate. They are usually better at understanding speech than communicating.

Behavior signs

Children and adults with cri-du-chat are usually gentle, happy, and friendly and enjoy social interaction. However, they may also present with some behavioral issues, including:

Cri-du-chat syndrome results from a partial or complete deletion of the end of the short (p) arm of chromosome 5. Most deletions occur spontaneously early in embryonic development, during the formation of reproductive cells.

According to the National Organization for Rare Disease, about 80–90% of deletions occur from sperm formation. About 10–15% result from balanced translocation involving chromosome 5 and another chromosome. This involves chromosomes breaking off and rearranging themselves, resulting in abnormal genetic material.

The remaining 3–5% are due to a deletion in the interior part of the chromosome (interstitial deletion).

Females develop cri-du-chat syndrome slightly more often than males.

It is unclear what causes the deletion responsible for cri-du-chat syndrome. Couples with typical chromosomes have a 1% risk of having a second child with the condition. In instances where one parent has a chromosome 5 abnormality, subsequent children may have cri-du-chat syndrome.

Around 10–15% of individuals with the condition inherit a chromosome abnormality called a balanced translocation.

A carrier parent with a balanced translocation may have an increased risk of having a child with abnormal chromosomal development. While it does not affect the carrier, it may become unbalanced once passed to their child.

Healthcare professionals generally diagnose cri-du-chat in the hospital upon the infant’s birth through clinical evaluation and detecting symptoms associated with the condition.

If a doctor suspects the newborn to have the cri-du-chat, they may perform a karyotype analysis to confirm the deletion of chromosome 5.

Further tests can help confirm the diagnosis if the karyotype analysis results turn out normal but the suspicion is high. These tests include:

  • fluorescence in situ hybridization (FISH)
  • comparative genomic hybridization (CGH)
  • quantitative polymerase chain reaction (PCR)

A doctor may also use an MRI scan of an individual’s brain to look for characteristics consistent with cri-du-chat.

An amniocentesis test done prenatally can also diagnose the condition. Structural abnormalities can also be observable through an ultrasound scan, including cerebellar hypoplasia and cardiac abnormalities.

There is no specific treatment for cri-du-chat. Treatment focuses on managing people’s symptoms.

Early intervention can help people reach their maximum potential. Physical and speech therapy can be beneficial for a child’s development.

Comprehensive planning from a healthcare team can help. This team may include:

Audiometric examinations can help those with sensorineural deafness. Surgery may be necessary to treat medical issues associated with cri-du-chat syndrome, including:

Research is still ongoing into cri-du-chat syndrome. One study showed that early schooling in the home environment might help a child with cri-du-chat syndrome achieve the skills of their neurotypical peers aged 5–6 years old.

Meanwhile, children over age 10 years who also attended special schooling and lived in supportive home environments learned adequate communication.

A 2016 study found that giving people with cri-du-chat a special educational program designed for them led to improved social skills.

A 2018 study on the effects of oral stimulation intervention on newborn babies with the condition showed that the intervention led to increased milk intake. It also promoted their development and helped the baby transition from a feeding tube to bottle-feeding.

However, this study only looked at one newborn, making it difficult to draw conclusions from the results. For affected newborns with feeding difficulties, tailored interventions by an occupational therapist may help.

In 2019, researchers did a 7-year follow-up study on individuals with Cornelia de Lange and cri-du-chat syndromes. They found that people with the two conditions demonstrated improved receptive language skills and stable adaptive behaviors over time. Given the small study size and the variability, the authors note that the results cannot predict individual patient outcomes.

Cri-du-chat may have symptoms similar to other disorders. These include:

  • Wolf-Hirschhorn syndrome (Wolf syndrome)
  • Patau syndrome
  • intellectual disability syndromes
  • multiple congenital anomalies
  • other chromosomal disorders, such as monosomy and trisomy syndromes

Many children with cri-du-chat syndrome can lead full lives. They may live into adulthood but with significant disabilities. The survival rate is generally good, and some may even live beyond 50 years old.

The risks of death and disability decrease after a child’s first birthday. About 90% of deaths occur during the first year, and 75% occur during their first month of life.

Early diagnosis and treatment can significantly affect a person’s outlook with cri-du-chat. Early therapeutic measures can improve their physical and mental development and social adaptation.

Caregivers of children with cri-du-chat syndrome will likely need ongoing support from their healthcare team.

If a child is diagnosed with the condition, family members should ask their doctors about early intervention and how it can help their child reach their full potential.

Parents who plan to have another baby may consider undergoing genetic counseling since subsequent children may be at risk of having cri-du-chat syndrome.

There are several support groups for families of people with cri-du-chat syndrome. These support groups offer resources and events for individuals with the condition.

These organizations include:

Cri-du-chat syndrome is a rare genetic disorder caused by a missing piece of genetic material. This causes significant issues in a child’s growth and development.

Individuals with this syndrome may have problems with their cognitive, behavioral, mental, and physical development.

Early intervention is crucial in helping an individual reach their maximum potential. Parents and caregivers should collaborate with their healthcare team on a comprehensive treatment plan to help the child with cri-du-chat live a full life.