Cri du chat syndrome: symptoms, causes, treatment • hello healthy

Definition

What is cri du chat syndrome?

Cri du chat syndrome is a congenital birth defect in babies that makes your little one have a high-pitched crying sound like a cat's scream. The term "cri du chat" comes from French which means "cry of a paintOr "cat cry".

Cri du chat syndrome is a chromosomal disorder also known as 5p- (5p minus). This is because a part is missing from the 5th chromosome.

Normally, humans have 23 pairs of chromosomes. The chromosome itself is the structure in DNA that determines human nature.

Chromosomal abnormalities can occur due to errors during the division of the cells of the prospective baby. Meanwhile, in babies who have cri du chat, there are some missing segments on the fifth chromosome.

As a result, the growth and development of the baby's organ structure in the womb is not optimal. The main characteristic of cri du chat syndrome is a defect in the structure of the larynx (the structure in the throat that regulates sound production) resulting in a high pitched crying sound.

How common is this condition?

Cri du chat syndrome is a rare congenital condition of the newborn. Quoting from the U.S National Library of Medicine, it was recorded that around 1 to 20,000-50,000 newborns can experience this syndrome.

Signs & Symptoms

What are the signs and symptoms of cri du chat syndrome?

As the name implies, the typical symptom of cri du chat syndrome is the high-pitched cry of a baby like a cat. The symptoms of this cri du chat usually vary between each baby who experiences it.

The severity of the baby's symptoms is also not the same depending on how much part is missing on the 5th chromosome.

The various signs and symptoms of cri du chat syndrome are as follows:

Small chin size
The face is very round
The nose is small
There is a fold of skin over the eye
An abnormally wide eye size
Small jaw
Ear abnormal shape

Quoting from the National Human Genome Research Institute, cri du chat in infants and children can also include small head size (microcephaly).

Not only that, low birth weight babies (LBW) and body weight tend to find it difficult to increase with age. In addition, babies and children with this syndrome can also experience other complications, such as:

Structural abnormalities in the throat also make it difficult for babies to eat, drink and swallow. This makes babies and children experience failure to thrive due to nutritional deficiencies.
Hypertelorism, the distance between the two eyes is further apart from the normal condition.
Cognitive disorders and mental retardation, such as language or speech disorders in infants, delayed walking, hyperactivity, and others.
Heart defects, such as a gap in the wall or lining of the heart.
Kidney abnormalities.
Bone problems, for example scoliosis or a curved spine.
Infants and children have visual and hearing problems.

Babies and children with this syndrome often have difficulty speaking and speaking. However, babies and children who have this syndrome are able to learn verbal skills to communicate with others.

Although there are babies with cri du chat syndrome who are also born with organ defects and serious medical conditions, most babies actually have a normal life expectancy.

Babies and children who experience this syndrome are usually able to move well and have social interactions with other people as usual.

When to see a doctor?

Cri du chat syndrome is a condition that is congenital in newborns. If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person's body is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes cri du chat syndrome?

Most cases of cri du chat are not caused by genetics. This means that this syndrome is not passed from parents to children.

The cause of the cri du chat syndrome is due to the loss of part of the 5th chromosome or what is known as minus 5p (5p-).

The loss of part of the 5th chromosome usually occurs during the process of formation of reproductive cells, namely egg cells and sperm cells. That is why this syndrome starts in the early stages of fetal development.

Babies born with this syndrome generally don't have a family history of this condition. However, there is a small proportion of babies born with this syndrome because it inherits a missing chromosome part from their parents.

This can happen because the parents carry a rearrangement of chromosomes called a balanced translocation. Balanced translocation is a condition where genetic parts are missing.

According to the National Center for Advancing Translational Sciences, the missing chromosome in infants and children with cri du chat is CTNND2.

The loss of this part of the chromosome is then associated with physical and intellectual disorders in infants and children.

Risk Factors

What increases the risk of getting cri du chat syndrome?

What can increase the risk of cri du chat syndrome in some babies is when the parents inherit the missing chromosome.

It is better to consult further with your doctor to reduce the risk factors that you and your baby may have related to cri du chat.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

Cri du chat can be diagnosed as a newborn based on signs of physical abnormalities and other symptoms such as a distinctive, shrill cry like a cat's scream.

The doctor will usually carry out further tests on the baby by looking at the medical history, symptoms, physical condition, and laboratory test results to get a diagnosis.

The doctor can also do an X-ray or x-ray examination of the baby's head to detect possible abnormalities at the base of the skull. In addition, there is also a chromosome test using a special technique known as FISH analysis.

This chromosome test aims to help detect any missing chromosome parts. If there is a family member with a history of cri du chat syndrome, your doctor may recommend that you do genetic testing or chromosome analysis during pregnancy.

This test is done by the doctor by taking a small sample of tissue outside the amniotic sac or taking a sample of amniotic fluid.

Therefore, it is important to always convey any conditions and complaints that you experience during pregnancy.

This method will help the doctor to find out the cause and the right treatment to maintain the health of the fetus in your womb.

What are the treatment options for cri du chat syndrome?

There is no specific treatment for cri du chat syndrome. Children born with this syndrome, without any fatal complications, can grow and develop into adulthood.

However, the delay in development can make children have low cognitive function which can be characterized by low IQ scores.

That is why, although there is no specific treatment that can really cure this birth defect in the form of cri du chat, doctors usually recommend treatment with physical therapy.

Physical therapy for babies and children with this syndrome will help them reach developmental milestones for other children their age.

These developments can include gross motor skills such as babies can sit alone, babies can crawl, babies can stand, and babies can walk.

In addition, physical therapy can also support the baby's communication skills and provide treatment if your child is classified as hyperactive.

Treatment related to cognitive function and mental retardation usually involves expert psychotherapy.

This should also be accompanied by emotional and physical support from the people closest to them to support children's activities.

Providing fast and appropriate therapy and treatment from the start can help babies and children with this syndrome to train their abilities and potential. This of course aims so that your little one can live a good life.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.