Cri du chat
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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.
Psychomotor disability is a delay in the acquisition of skills requiring mental and muscular activities such head control, sitting up, and walking.
About half of children with cri du chat syndrome were able to dress themselves by age 5 years.
Additional facial features include an abnormally small distance from the upper lip to the nose (short philtrum), incomplete closure of the roof of the mouth (cleft palate), an abnormal groove or gap in the upper lip (cleft lip), and abnormal fullness of the lower lip.
In addition, the fleshy mass (uvula) that hangs in the back of the throat may be spilt (bifid uvula).
Some are also at risk for aspiration which can lead to pneumonias.
In one study, only 50% of children with cri du chat syndrome were able to feed themselves with a spoon by 3.5 years of age.The symptoms of cri du chat syndrome vary from case to case.The characteristic high-pitched, shrill cry associated with cri du chat syndrome is present during the first few weeks of life.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.Seit über 20 Jahren ist unser Förderverein im deutschsprachigen Raum die Anlaufstelle für betroffene Familien.