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What is Cri Du Chat Syndrome?

Updated on October 28, 2013

Cri du chat syndrome is a genetic disease, also called Lejeune's syndrome, or chromosome 5p deletion syndrome.

Cri du chat syndrome is a very rare genetic disease characterized by the child's meowing sound similar to the meowing sound created by a cat. The name cri du chat is French for "cry of the cat" or "call of the cat". It affects more females than males.

Cri du chat syndrome occurs as a result of the removal of certain important genes from chromosome 5. One of the missing genes is called telomerase reverse transcriptase, a type of gene that is a key component in meiosis or the process of cell division as this is the gene that seals the chromosome ends together.

What causes Cri du chat syndrome? (CDCS)

Cri du chat syndrome is caused by defective chromosomes that affect the fetus as it develops in the mother's womb. The child's cry which sounds like a meowing cat is caused by a birth defect in the larynx.

Chromosome 5 is a type of chromosome that plays an important role in the process of cell division and alterations that can possibly occur during the process may be responsible for causing this genetic disease.

The changes that occur in the body's genetic attributes during cell division may also be responsible for causing various types of cancer in humans.

What is chromosome 5?

Recent studies conducted on Cri du chat syndrome show that a small percentage of the disease occurs on some members of the family.

How do you recognize someone with Cri du chat syndrome?

People who suffer from CDCS manifest the following physical characteristics:

* low weight at birth

* as the child matures physically, his face becomes narrower

and longer

* abnormal growth of teeth

* hands and feet are short

* very early growth of grey hair

* the space between the nose and lips is relatively narrow (hypertelorism)

Hypertelorism is a physical abnormality characterized by a large distance than normal between the eyes caused by the pre-mature development of the sphenoid, a bone found in the skull and other parts of the brain and nose that have undergone abnormal development.

Surgery can be performed to correct this deformity and must be performed when the child is about 5 to 8 years old until the developing teeth has settled in the maxilla region of the face.

* small head circumference (microcephaly)

Microcephaly is a kind of disorder of the brain and central nervous system that primarily affects the head of a person. It is characterized by a small head size which is already present at birth or just developed shortly after birth. People with microcephaly are mentally challenged and have a short life span.

* muscle weakness (hypotonia)

Hypotonia is a sign of an underlying disease of the motor nerves thus affecting muscle movement and activity. It is characterized by weak muscles and the inability to perform muscle contractions.

Children with Cri du chat syndrome suffer from a certain form of scoliosis caused by the abnormal development in their muscular system particularly on the portion where the vertebra form a letter S. There has been no given explanation for this deformity, so far, but doctors say this physical abnormality will disappear as the child matures. However, there are cases when this abnormality is never cured.

What are the symptoms of Cri du chat syndrome?

People who suffer from CDCS are hyperactive, they have short attention span, restless, and exhibit hostile behavior. They also have the tendency to hurt themselves. CDCS patients hit their head against objects they see around them, against their own body and bite some parts of their body.

How do you treat this rare genetic disease?

Parents of a child with this disorder should undergo counselling. Studies show that half of those suffering from this disorder learn to communicate verbally. The cat-like cry that characterizes Cri du chat syndrome goes away as the child grows older

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    • profile image

      anonymous 6 years ago

      really good. Helped a lot :)

    • greenmind profile image

      GreenMind 6 years ago from USA

      Wow, a really informative lens. Nice work --

    • Bus Stop Toy Shop profile image

      Bus Stop Toy Shop 7 years ago

      I'd never come across Cri-Di-Chart syndrome before. Thank you for the introduction.