Cri-du-Chat+Syndrome+(Cry+of+the+Cat)


 * What is Cri-Du-Chat?**

Cri-du-chat Syndrome, also known as Cry of the Cat, occurs when there is a deletion mutation that occurs in part or all of the short arm of one of the pair of number five chromosomes. Other names for Cri-Du-Chat are:
 * Cat cry syndrom
 * Chromosome 5p- Syndrome
 * 5p Deletion Syndrome
 * monosomy 5p
 * 5p- Syndrome




 * The symptoms and effects of Cri-du-Chat Syndrome include:**


 * Cat-like cry in infants
 * Abnormal laryngeal development in infants
 * Low birth weight
 * Severe mental retardation
 * Severe growth retardation [[image:http://www.ojrd.com/content/figures/1750-1172-1-33-1-l.jpg width="292" height="390" align="left" caption="Clinical features of a patient with Cri du Chat syndrome at age of 8 months (A), 2 years (B), 4 years (C) and 9 years 6/12 (D)."]]
 * Small head
 * Reduced muscle tone
 * Round face
 * Low set deformed ears
 * Wide-set eyes
 * Epicanthic folds
 * Respiratory problems
 * Feeding problems
 * Scoliosis
 * Cardiovascular defects
 * Language delay
 * Self-injury behavior
 * Communication difficulties
 * Headbanging
 * Self-biting
 * Low IQ
 * Creases on the palm of hand
 * Strabismus
 * Simian crease
 * Slightly short hand bones
 * Malocclusion
 * Harelip
 * Cleft palate
 * Failure to thrive
 * Malocclusion
 * Shuffling gait


 * How is Cri-Du-Chat inherited?[[image:chromosome_deletion.JPG width="171" height="168" align="right" caption="This picture shows the deletion of a gene on chromosome 5 that causes Cri-Du-Chat Syndrome"]]**

Most cases of cri-du-chat syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. People have Cri-Du-Chat typically have no history of the disorder in their family. However, about 10 percent of people with cri-du-chat syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any medical problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in birth defects and other health problems characteristic of this disorder.


 * Cri-Du-Chat Treatment:[[image:http://www.criduchat.asn.au/criduchat/Images/mindy_courtney2.jpg align="left" caption="Greeting Courtney at a meeting of the Queensland families from our cri du chat support group"]]**

No treatment exists for the underlying genetic disorder, so medical care is the only way to treat Cri-Du-Chat symptoms. Chronic medical problems, such as respiratory tract infections, may occur and require treatment. Heart defects may need to be corrected by surgery. The child with cri-du-chat syndrome may require a gastrostomy tube for feeding. To increase communication skills, early intervention by a speech therapist can help the child learn to use sign language. Behavior modification programs can help families manage the child's behavior problems, often a source of stress for the family. Cri-Du-Chat doesn't have the treatment yet because gene therapy is in its infancy and no techniques have yet been developed to treat these types of large chromosomal abnormalities. Although it is possible that some of the effects of this genetic deletion may eventually be treated by this method, it is unlikely in the near future.


 * Statistics on the numbers of individuals born with Cri-Du-Chat**


 * 1per 200,000-500,000 newborns are affected by Cri-du-chat syndrome
 * 1 in 200,000 or 1,360 people in USA
 * The ratio of Cri-Du-Chat between male and female is 3 girls to 2 boys
 * 80% are caused by a spontaneous deletion in one of the child's number 5 chromosomes
 * 10-13% by an error in a number five chromosome in either parent
 * 7-10% result from rare genetic anomalies


 * Diagnosis:**

The diagnosis for Cri-Du-Chat is usually given at birth, the doctors will discuss the findings with the parents. The parents should maintain regular contact with their health care provider, and recieve genetic testing and counseling if their family has a history of the disease.


 * Prognosis:**

The outcome can vary form person to person who has the disease, but mental retardation is usually the case. About half of the people with the disease learn vocal and communication skills. The cry sounding like a cat usually becomes less noticeable as the person grows older.


 * Interesting Information:**

Cri-Du-Chat is also called 5p- or 5p minus syndrome because part of the p arm is deleted.

Children who have cri du chat syndrome can be diagnosed with other conditions and syndromes by mistake, because in a very few cases, the deleted chromosome is present in only some cells in the body.i.e. 20%, 50% or 75%.

Cri-Du-Chat is a relatively rare genetic condition with an estimated incidence of between around 1:25,000 to 1:50,000 births.

Approximately 80% are caused by a spontaneous deletion in one of the child's number 5 chromosomes, 10-13% by an error in a number five chromosome in either parent and the remaining 7-10% result from rare genetic anomalies.

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 * Bibliography**


 * Comments**

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