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In addition, the fleshy mass (uvula) that hangs in the back of the throat may be spilt (bifid uvula).
As affected infants age the face may lose its plumpness and become abnormally long and narrow.
About half of children with cri du chat syndrome were able to dress themselves by age 5 years.
Moderate to severe intellectual disability is present in most cases.
Affected infants may have feeding difficulties due to low muscle tone, poor suck, and gastroesophageal reflux disease.
Some are also at risk for aspiration which can lead to pneumonias.
Improper alignment of the upper and lower teeth (malocclusion) may also occur.
There has also been an association with cri du chat and Hirschsprung’s disease.Speech development is especially delayed in children with cri du chat syndrome.Affected children usually understand speech better than they can communicate.Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development.Introduction The disorder was first described in the medical literature in 1963 by doctor Lejeune who named the disorder after the distinctive cat-like cry.
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Affected infants may also display low birth weight, growth deficiencies, diminished muscle tone (hypotonia), and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant’s age and sex.