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Cri-du-chat 

Cri-du-chat ("cry of the cat" in French) is a genetic disorder caused by the loss or misplacement of genetic material from the 5th chromosome.  It was named by Professor Lejeune (who also identified the genetic cause of Down Syndrome) for its high pitched cry.  Besides the physical features (i.e. small head, frame and build; facial characteristics and poor muscle tone) there are often learning and communication difficulties as well as internal abnormalities such as hernias, reflux and curvature of the spine associated with the rare disability.

 

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