Cri du Chat Syndrome: Causes, Symptoms, and Treatment

Author: Thomas C. Weiss
Published: 21 Feb 2010 - Updated: 15 Sep 2026
Publication Type: Informative

Table of Contents:
Synopsis - Definition - Overview - FAQs - Insights, Updates - Related Content

Synopsis

This information explains Cri du chat syndrome, a genetic disorder caused by a deletion on the short arm of chromosome five that the geneticist Jerome Lejeune first identified in 1963. It affects between one in twenty-thousand and one in fifty-thousand children, making it one of the more common deletion syndromes, and in about eighty percent of cases the missing genetic material comes from the father's sperm. Parents, caregivers, and clinicians will find it useful because it details how the disorder produces its hallmark high-pitched, cat-like cry along with microcephaly, low muscle tone, developmental disabilities, and heart or skeletal problems, and it notes that the U.S. Social Security Administration lists the condition as a Compassionate Allowance to speed disability claims. The account is helpful for families and people with disabilities because it clearly describes diagnosis through the infant's distinctive cry and prenatal chromosomal testing such as chorionic villus sampling and amniocentesis, and it explains that while no cure exists, therapy for motor and language skills and genetic counseling can support affected children and their relatives.*

At a Glance

• 1 - The syndrome is also called 5p minus syndrome and cat cry syndrome. Each name points to the same chromosome five deletion.
• 2 - The deleted TERT gene helps keep the tips of chromosomes intact during cell division. Its loss is one factor behind the range of symptoms.
• 3 - Diagnosis becomes harder after age two because the telltale cat-like cry often fades as the child grows older. The larynx changes with age.
• 4 - People with the condition may account for about one percent of those with severe developmental disability. Many can reach an average life expectancy when major organs are unaffected.

Topic Definition

Cri-Du-Chat (Cat's Cry) Syndrome

Cri du chat syndrome is a genetic condition that results from the loss of a piece of the short arm of chromosome five, which is why it is also known as chromosome 5p deletion syndrome. The name comes from the French phrase for cry of the cat, describing the high-pitched sound made by affected infants whose larynx has not developed normally. Because several neighboring genes are removed by the deletion, the syndrome brings together a recognizable set of traits that can include a small head, a round face, low birth weight, poor muscle tone, and developmental disability, with the specific mix and severity varying from one child to the next depending on how much genetic material is missing.

Overview

Cri Du Chat Syndrome: Causes, Symptoms, Treatment

Cri Du Chat Syndrome is caused by a deletion on the short arm of chromosome five. Several genes are missing due to the deletion, and each can contribute to the symptoms the child experiences. One of the deleted genes known to be involved is referred to as 'TERT,' or telomerase reverse transcriptase,' which is important during cell division because it assists in keeping the tips of chromosomes intact. Additional names Cri du chat are called 'Chromosome 5p deletion syndrome,' '5p minus syndrome,' and 'Cat cry syndrome.'

The U.S. Social Security Administration (SSA) has included Cri du Chat Syndrome as a Compassionate Allowance to expedite a disability claim.

Causes

Cri du chat is one of the most common syndromes caused by chromosomal deletion, affecting between one in twenty-thousand and one in fifty-thousand children. Eighty percent of children affected by the syndrome experience chromosome deletion from their father's sperm rather than their mother's egg. When these deletions in the child's chromosomes occur during sperm or egg formation, it is caused by unequal recombination during meiosis. Recombination usually happens between pairs of chromosomes during meiosis while lined up at the metaphase plate. If the chromosomes do not line up as they should, or if the chromosome breaks are not repaired appropriately, the structure of the chromosome may be altered. When unequal recombination happens at this location on chromosome five - the result is Cri du chat syndrome.

Deletions are caused by a break in the person's DNA molecule that makes up a chromosome. In most instances, the chromosome breaks happen while the sperm or egg cell, also referred to as the 'male or female gamete, is still developing. The child will develop Cri du chat syndrome when the gamete becomes fertilized. The parent themselves, however, does not have the break in any other cells in their body; they do not have the syndrome themselves. The break is usually so rare that it is unlikely to happen again, should the same parent have another child. It is possible, though, for a child to inherit a broken chromosome from a parent who also had Cri du chat syndrome.

Symptoms of Cri Du Chat Syndrome

Children born with Cri du chat syndrome are commonly small at birth. They may also experience respiratory difficulties and a larynx that does not develop as it should, leading to the characteristic cat-like cry associated with the syndrome. People with Cri du chat syndrome present with very distinctive features, such as a small head or, 'microcephaly,' a small chin, a round face, a small bridge of the nose, and folds of skin over their eyes.

People with the syndrome can also experience several problems inside their bodies. Some children with Cri du chat syndrome have skeletal problems, heart defects, poor muscle tone, or hearing and vision difficulties. As children with the syndrome grow, they often experience difficulties with talking or walking and can have behavioral difficulties such as hyperactivity or aggression, as well as severe developmental disabilities (previously called mental retardation). If a child with Cri du chat syndrome does not experience defects with major organs or other critical medical conditions, their life expectancy is average. The population of people with Cri du Chat syndrome might account for approximately one percent of persons with severe developmental disability.

The symptoms of Cri du chat syndrome can include:

• Wide-set eyes
• Developmental disabilities
• Small jaw or, 'micrognathia'
• Downward slant to the eyes
• Small head or, 'microcephaly'
• Skin tags just in front of the ear
• Low birth weight and slow growth
• Low-set or abnormally shaped ears
• Partial webbing or fusing of fingers or toes
• Cry that is high-pitched and sounds like a cat
• Slow or incomplete development of motor skills
• Single line in the palm or, 'simian crease'

Diagnosing

Most of the time, a doctor can identify Cri du chat syndrome by an infant's cat-like cry, which is distinctive. Additional signs include microcephaly, developmental disabilities, and poor muscle tone. Chromosomal testing is another means of testing for the syndrome while a child is still in the mother's womb. An expert can either test a small sample of tissue from outside the sac where the child develops, referred to as 'chorionic villus sampling or CVS,' or they may test a sample of amniotic fluid known as 'amniocentesis.'

A physical examination of the child can also reveal different things. The child may experience an inguinal hernia, separated abdominal muscles, 'diastasis recti,' incompletely or abnormally folded ears, or an extra fold of skin over the inner corner of their eye, referred to as 'epicanthal folds.' A skull X-ray can also show an abnormal angle at the base of the child's skull.

Treatment

Medical science has not created a form of treatment for Cri du chat syndrome at this time. Children with the syndrome may, however, pursue therapy with the goals of improving their motor and language skills, as well as assisting them with development. Developmental disabilities can also be addressed through a variety of means. There is no known way to prevent Cri du chat syndrome. People with a family history of the syndrome who wish to become pregnant might consider genetic counseling.

Frequently Asked Questions

NOTE: Researched FAQs by Disabled World (DW)

Is Cri du chat syndrome hereditary in most families

In most cases it is not inherited but happens as a random chromosome break during sperm or egg formation, so an unaffected parent is unlikely to have another child with the syndrome unless that parent already carries the deletion.

Can Cri du chat syndrome be detected before birth

Yes, prenatal chromosomal testing such as chorionic villus sampling of placental tissue or amniocentesis of amniotic fluid can identify the chromosome five deletion while the baby is still in the womb.

How is Cri du chat syndrome different from Down syndrome

Both were studied by geneticist Jerome Lejeune, but Cri du chat comes from a deletion on chromosome five while Down syndrome comes from an extra copy of chromosome twenty-one.

What support services are available for affected children

Speech therapy, physical and occupational therapy, and early developmental programs are commonly used, and in the United States the condition qualifies as a Compassionate Allowance for faster disability claims.

Does Cri du chat syndrome affect life expectancy

Children who do not have serious heart defects or other critical medical problems often have an average life expectancy, though ongoing developmental support is usually needed throughout life.

Why does the characteristic cat-like cry change over time

The cry results from abnormal larynx development and tends to become less noticeable as the child grows, which is one reason diagnosis is often harder after the age of two.

Are boys and girls affected equally by the syndrome

The disorder can occur in both boys and girls, since the deletion involves chromosome five rather than the sex chromosomes, though the severity of features varies between individuals.

What should parents with a family history consider before pregnancy

Genetic counseling is recommended so that families can understand the small chance of recurrence and review testing options before or during a future pregnancy.

Insights, Analysis, and Developments

Editorial Note: What makes Cri du chat worth understanding is how a single break in one chromosome, occurring randomly during the formation of a sperm or egg, can shape a child's entire developmental path while leaving the unaffected parent with no sign of the condition themselves - which also means the odds of a second child inheriting it remain very low unless a parent already carries the syndrome. For families weighing the future, that distinction matters, and so does the reassurance that unequal recombination during meiosis, not anything a parent did, is the underlying cause. Because there is no cure and no known way to prevent it, the practical focus falls on early recognition of the cry, microcephaly, and poor muscle tone, followed by steady therapy aimed at speech, movement, and behavior, with genetic counseling available to those with a family history who hope to have children.*

Author Credentials: Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a CNA Thomas has providing care for people with all forms of disabilities. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.

* Editorial additions by Ian C. Langtree.