Cri-du-chat syndrome (cris-du-chat syndrome, 5p minus syndrome) [Doctor-supervised]

What is Cri du Chat syndrome (Cry-Cat syndrome, 5p minus syndrome)?

Cri du Chat syndrome is a disease caused by the loss of a part of chromosome 5. One of the characteristic symptoms is a high-pitched, cat-like cry, and it is also called “5p deletion syndrome,” “5p- syndrome (5p minus syndrome),” or “cries the cat.” (‘Cri du Chat’ means “cat’s cry” in French.) In addition to the characteristic cry, other symptoms include growth retardation, hypotonia, and delayed psychomotor development.

Symptoms and characteristics of Cri du Chat syndrome (Cry-Cat syndrome, 5p minus syndrome)

In addition to the characteristic high-pitched, cat-like cry, Cri du Chat syndrome causes a number of physical and developmental symptoms. We’ll take a closer look at each one of them here.

Facial Features    

Children with Cri du Chat syndrome are known to have distinctive facial features, such as widely spaced eyes, round faces, low-set ears, and small chins.

Physical characteristics     

 The most typical symptom of Cri du Chat syndrome is a high-pitched cry that sounds like a cat’s meow, which can be heard from the newborn period through to infancy.

Other physical characteristics may include low birth weight (less than 2,500g), a small head, and poor muscle tone.

They may not be able to feed or swallow properly, which can lead to aspiration and pneumonia.

Complications in each organ　

Each organ may also develop complications, such as:

Congenital heart disease　

Approximately 20% of patients have congenital heart diseases such as ventricular septal defect, patent ductus arteriosus, and atrial septal defect.

Genitourinary complications　

Undescended testicles, hypospadias, horseshoe kidney, and renal agenesis may be observed.

Ophthalmologic complications　

Strabismus, myopia, astigmatism, etc. may be present.

Other complications　

Complications such as epilepsy, scoliosis, crooked teeth, and cleft lip or palate may also occur.

Developmental disorders

Cri du Chat syndrome often shows mental and motor development disorders, and due to delayed motor function, there is a tendency for delays in holding the head, sitting, and walking alone. As for mental development, there is delayed language development and communication disorders.

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Causes of Cri du Chat syndrome (Cry-Cat syndrome, 5p minus syndrome)

Human genes are made up of 46 chromosomes, with 23 pairs of chromosomes inherited from the father and the mother. Of the 23 pairs, 22 are called autosomes, numbered 1 through 22.

The remaining pair is called the sex chromosomes, and the combination of the X and Y chromosomes determines a person’s gender (males have an X and Y combination, females have an X and X combination).

A single chromosome can be further divided into smaller parts, with a centromere in the center, which divides into a short arm and a long arm. The short arm is called “p” and the long arm is called “q.” For example, in the case of chromosome 5, the short arm is called 5p and the long arm is called 5q. (See diagram)

Cri du Chat syndrome is caused by a partial deletion (a term used in genetics that means the same as “to be missing” or “to be lost”) of the short arm of chromosome 5 , so it is also called ” 5p deletion syndrome ” or “5p- syndrome” to include the location of the chromosomal abnormality .

Chromosomal abnormalities are a type of genetic disease, but Cri du Chat syndrome is not necessarily inherited from parents. In approximately 85% of cases, neither parent has a chromosomal abnormality, and it is thought to be due to a mutation. Approximately 80% of mutations occur in the father’s sperm, and abnormalities occur when chromosomes are broken for some reason during the sperm formation process. There are individual differences in how much of the chromosome is missing, and generally the larger the deletion , the more severe the symptoms tend to be.

The remaining 10% or so are caused by unbalanced reciprocal translocations. This type occurs when one of the parents has a chromosomal abnormality called a “translocation,” and the disease is passed down from parent to child.

The remaining 5% or so are called mosaic types, in which chromosome deletions occur during the cell division process of the fertilized egg after fertilization. In the fertilized egg, normal cells and cells with chromosomal abnormalities are mixed together like a “mosaic.” Since not all cells have chromosomal abnormalities, symptoms are generally mild.

How to test for Cri du Chat syndrome (cri-du-chat syndrome, 5p minus syndrome)

The diagnosis of Cri du Chat syndrome is made after birth based on physical findings and confirmed by a blood chromosomal test called the FISH method. Recently, a new type of prenatal testing called non-invasive prenatal genetic testing (NIPT) has also become available that can detect small chromosomal deletions that cause Cri du Chat syndrome.

NIPT (New Prenatal Testing) is a new screening test that involves taking blood from the mother and analyzing the DNA fragments of the baby in the mother’s blood to check for chromosomal diseases and abnormalities. Tokyo Hygienic Laboratory, which is affiliated with Hiro Clinic NIPT , has the latest genetic testing device called VeriSeqNIPT Solution V2, which makes it possible to detect small chromosomal abnormalities that are difficult to detect with other devices. (Although it cannot detect all cases of Cri du Chat syndrome, it can detect deletions of 7 million bases or more.)

At Hiro Clinic NIPT, it is possible to undergo chromosome testing immediately after confirming pregnancy with an ultrasound examination.

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Probability of getting Cri du Chat syndrome (Cry-the-Cat syndrome, 5p minus syndrome)

Cri du Chat syndrome is thought to occur in one in every 15,000 to 50,000 births, making it a relatively rare condition.

Treatment for Cri du Chat syndrome (Cry-du-Chat syndrome, 5p minus syndrome) 

There is currently no specific treatment for Cri du Chat syndrome. Symptoms vary from person to person, and issues that need attention vary depending on age, so treatment is given according to the symptoms that appear.

During the neonatal period, feeding tubes are used to treat feeding disorders and respiratory symptoms are treated. In cases where congenital heart disease, urological complications, epilepsy, etc. are evident, surgery or drug therapy is performed.

Once treatment for complications has settled down, children of preschool age and older will undergo rehabilitation for delayed motor and mental development, and undergo regular dental and eye examinations. Special education arrangements are recommended for kindergartens and elementary schools.

Cri du Chat syndrome is a disease that not only causes physical disabilities, but also a variety of other symptoms such as delayed mental development and communication disorders, and there is considerable individual variation, so it is important to prepare a multifaceted support system that is tailored to each individual.

The prognosis for Cri du Chat syndrome depends on the condition of congenital heart disease and intractable epilepsy, but many people survive into adulthood.

summary

Cri du Chat syndrome is a chromosomal abnormality caused by the loss of part of chromosome 5. One of the characteristic symptoms is a high-pitched, cat-like cry. Other symptoms include characteristic facial features, growth retardation, hypotonia, and delayed psychomotor development.

This is a relatively rare chromosomal abnormality, occurring in one in every 15,000 to 50,000 births, but recently it has become possible to perform prenatal diagnosis using the latest testing equipment through NIPT (non-invasive prenatal testing) .

There is no special treatment; treatment is provided according to each individual’s symptoms, but many people live into adulthood if complications are well managed.

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