Cri du chat

Below you will find more information about Cri du chat from Medigest. If you believe that you are suffering from any of the symptoms of Cri du chat it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cri du chat and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cri du chat comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Cri du chat syndrome is a genetic abnormality caused by the partial deletion of the chromosome number 5. Its name is French for cry or call of the cat in reference to the meowing sound the infant makes when crying, a manifestation of the infant's larynx and nervous system problems.

Diagnosis

To confirm the existence of the disease, the infant needs to undergo genetic testing. Fluorescent in situ hybridization (FISH) can diagnose patients with very small deletions in their chromosome 5.

Treatment

There is no treatment that addresses Cri du chat, however, addressing metal retardation should be the parents primary concern.

Symptoms and Signs

Infants with Cri du chat suffer from behavioral and physiological problems, including problems with swallowing, poor growth, less than the average weight, delays in the development of motor and speech abilities, tantrums, hyperactivity, unusual facial features, and aggression. These signs are observed among children and adolescents: mental retardation, deep-set eyes, scoliosis, facial features coarsening and severe malocclusion.

Causes

The deletion of a portion in band 5p15.2, the Cri du chat critical region, is associated with all the features of the disease excluding the catlike cry. This is correlated to band 5p15.3. In most cases (80 percent), Cri du chat is caused by sporadic de novo deletion, while the remaining numbers is believed to arise from the uneven segregation of the parental balanced translocation.

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