Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development.The symptoms of cri du chat syndrome vary from case to case.NORD gratefully acknowledges Adam Mezoff, MD, Professor of Pediatrics, Cincinnati Children's Hospital Medical Center and Scott Pentiuk MD, Assistant Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, for assistance in the preparation of this report.
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.
Additional symptoms affecting different organ systems of the body can also occur.
Affected children usually understand speech better than they can communicate.
Some children may display hyperactivity or self-abusive behaviors.
While children with cri du chat syndrome are born hypotonic (low muscle tone), they tend to become hypertonic (high muscle tone) as they grow older.
Affected infants may have feeding difficulties due to low muscle tone, poor suck, and gastroesophageal reflux disease.
Moderate to severe intellectual disability is present in most cases.
Speech development is especially delayed in children with cri du chat syndrome.
Prematurely graying of the hair has also been reported.