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Additional symptoms affecting different organ systems of the body can also occur.

Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development.

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In French, Cri du chat translates into “cry of the cat”.

Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant's age and sex.

Affected children also exhibit delays in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor disability) and moderate to severe intellectual disability.

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NORD gratefully acknowledges Scott Pentiuk MD, Assistant Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, and Adam Mezoff, MD, Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, for assistance in the preparation of this report.