Cri Du Chat Syndrome

Cri du chat syndrome is a rare genetic disorder derived from the loss of a portion of the short arm of chromosome 5 (5p deletion). Every chromosome carries extensive genetic information crucial for the human body's adequate functioning. The loss of a portion of chromosome 5 short arm carries significant consequences for physical and psychological health that vary according to the dimension and location of the missing genetic material. Common manifestations of this disease include having a high-pitched cry that resembles the sounds of a cat (hence the name cri du chat “cries of a cat”), psychomotor and intellectual disability, abnormal facial features, small head size (microcephaly), deglutition problems, and delayed development, especially of the cognitive, motor and speech skills.

This syndrome is normally not genetically inherited, as researchers believe the deletion of the chromosome portion most often occurs spontaneously during early embryonic development. In about 10% of the cases, it is believed that this syndrome is caused by the inheritance of a genetically abnormal chromosome 5 from one of the parents that went undetected due to the absence of health problems manifestation.

No cure was ever found for this syndrome that affects about 1 in 15-000 to 50-000 live births, with higher prevalence in females. However, it is possible to stimulate the child and increase their quality of life and well-being by applying physical, speech and occupational therapy.

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