Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatment
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
The life expectancy of a person with Cri du Chat syndrome is generally good. Many children with Cri du Chat syndrome live well into middle age and beyond.
In this article, you’ll learn what the Cri du Chat syndrome is and what it is like to live with the syndrome. You’ll find out what symptoms it causes, how it’s diagnosed and treated, and what to expect for a child with Cri du Chat syndrome.
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Symptoms of Cri du Chat Syndrome
Symptoms in Babies
Like other chromosomal disorders, the symptoms and severity of the condition vary from person to person. However, there are a few key manifestations of the condition that are noticeable from birth. These hallmark features include:
While they may not have all of the features, many newborns with Cri du Chat have distinct physical characteristics, including:
Symptoms During Childhood
As children with the condition grow up, they may begin to show and experience a spectrum of symptoms related to Cri du Chat, as well as other disorders commonly found in people diagnosed with the condition, including:
Can kids with Cri du Chat talk?Speech and language development in people with Cri du Chat is generally delayed, and some people never learn to talk.
Can kids with Cri du Chat talk?
Speech and language development in people with Cri du Chat is generally delayed, and some people never learn to talk.
Causes of Cri du Chat Syndrome
The disorder is believed to be very rare—only about one in 15,000 to 50,000 infants are born with Cri du Chat. The condition tends to affect females more often than males and is diagnosed in people of all ethnic backgrounds.
While Cri du Chat is related to genes, it’s not necessarily aninherited condition. Most cases occurde novo(or spontaneously) during embryonic development.
In some cases, the condition occurs because genes aretranslocatedfrom one chromosome to another. This causes genetic material to be rearranged. Translocations between chromosomes can occur spontaneously or be passed down from a parent who is a carrier of an affected gene.
Researchers suspect that people with Cri du Chat who have severe intellectual disability may have deletions in a specific gene, CTNND2.More research is needed on the potential connection between the condition’s symptoms and specific genes. Understanding why the deletions in the gene happen will be an important part of directing diagnosis and treatment to improve the lives of people with Cri du Chat.
Diagnosis of Cri du Chat Syndrome
A few different types ofgenetic testing, including karyotyping, fluorescence in situ hybridization (FISH), and chromosome microarray analysis, can be used to look for deletions in chromosome 5 which are diagnostic of Cri du Chat.
A doctor may also order more highly specialized tests to determine if the deletions were spontaneous or from a parent’s affected gene. If the latter is the case, there are tests that can identify which parent has the translocated gene.
The increasing availability of more specialized genetic testing techniques has allowed some cases of Cri du Chat to be diagnosed prenatally.
Newborn Screenings for Genetic Disorders
Treatment for Cri du Chat Syndrome
The severity of Cri du Chat exists on a spectrum. The experience of having, being diagnosed with, and treating the condition and its symptoms will be unique to each person who has it.
Families who have children with Cri du Chat often enlist the help of many different types of healthcare providers, including allied health professionals, social workers, and education specialists. After the birth of a child with Cri du Chat, parents are usually referred forgenetic counseling.
As Cri du Chat is often diagnosed at birth or shortly thereafter, families can begin building a support team right away. Early intervention helps families develop strategies for managing both the physical and emotional differences children with Cri du Chat face compared to their peers.
The majority of children diagnosed with Cri du Chat begin some form of therapy before their first birthday. This often includes a combination ofphysical,occupational, andspeech therapy. If an associated health condition, such as acongenital heart defect, is present, the patient will need more specialized medical services in addition to routine care.
Parents may need to seek out community and academic resources to help children with Cri du Chat adjust to school. Special education programs are one option, depending on the type and extent of the child’s learning and/or physical disability, as well as taking into consideration their social and behavioral needs. Some families choose to homeschool children with Cri du Chat or enroll them in specially designed schools or programs.
Prognosis for Cri du Chat Syndrome
However, complications from the features of Cri du Chat syndrome can occur. Poor muscle tone and sucking can lead to the development ofaspiration pneumoniain some infants. Patients with Cri du Chat syndrome are also more prone toear infectionsandhearing loss.
However, people who have Cri du Chat are not always able to live independently. Many adults with the condition will need supportive health, social,case management, and vocational services.
Alternative and complementary therapies can also be helpful for patients with Cri du Chat, especially during childhood and adolescence.Play therapy,aromatherapy,music therapy, and therapy involving animals have all been shown to benefit children with Cri du Chat.
For children who have more severe disabilities, require feeding tubes (parenteral nutrition), and those who engage in serious self-injurious behavior may require additional care. Home health nurses, community living, or nursing facilities are also options for families who need assistance with helping their child live a full, safe, happy, and healthy life.
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Summary
Complications related to this condition, or those that commonly co-occur with it, can cause serious health problems. Treatment is specialized to the needs of each child. Most people with Cri du Chat live well into middle age and beyond.
Talk to a healthcare provider about genetic testing if you are concerned about Cri du Chat syndrome. Health and social services as well as genetic counseling are available to assist families.
3 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Kristoffersen, Kristian Emil.Speech and language development in cri du chat syndrome: a critical review.Clin Linguist Phon. 2008 Jun;22(6):457. DOI: 10.1080/02699200801892108National Organization for Rare Disorders.Cri du chat syndrome.MedlinePlus.CTNND2 gene.Additional ReadingAbout 5P- Syndrome. Five P Minus Society.Cri-du-chat syndrome. Genetics Home Reference. NIH. U.S. National Library of Medicine.Cri du Chat Syndrome. NORD (National Organization for Rare Disorders). Published 2017.
3 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Kristoffersen, Kristian Emil.Speech and language development in cri du chat syndrome: a critical review.Clin Linguist Phon. 2008 Jun;22(6):457. DOI: 10.1080/02699200801892108National Organization for Rare Disorders.Cri du chat syndrome.MedlinePlus.CTNND2 gene.Additional ReadingAbout 5P- Syndrome. Five P Minus Society.Cri-du-chat syndrome. Genetics Home Reference. NIH. U.S. National Library of Medicine.Cri du Chat Syndrome. NORD (National Organization for Rare Disorders). Published 2017.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Kristoffersen, Kristian Emil.Speech and language development in cri du chat syndrome: a critical review.Clin Linguist Phon. 2008 Jun;22(6):457. DOI: 10.1080/02699200801892108National Organization for Rare Disorders.Cri du chat syndrome.MedlinePlus.CTNND2 gene.
Kristoffersen, Kristian Emil.Speech and language development in cri du chat syndrome: a critical review.Clin Linguist Phon. 2008 Jun;22(6):457. DOI: 10.1080/02699200801892108
National Organization for Rare Disorders.Cri du chat syndrome.
MedlinePlus.CTNND2 gene.
About 5P- Syndrome. Five P Minus Society.Cri-du-chat syndrome. Genetics Home Reference. NIH. U.S. National Library of Medicine.Cri du Chat Syndrome. NORD (National Organization for Rare Disorders). Published 2017.
About 5P- Syndrome. Five P Minus Society.
Cri-du-chat syndrome. Genetics Home Reference. NIH. U.S. National Library of Medicine.
Cri du Chat Syndrome. NORD (National Organization for Rare Disorders). Published 2017.
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