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Improper alignment of the upper and lower teeth (malocclusion) may also occur.
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.
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.
In French, Cri du chat translates into “cry of the cat”.
The symptoms of cri du chat syndrome vary from case to case.
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.
As affected infants age the face may lose its plumpness and become abnormally long and narrow.
Approximately 15-20 percent of affected infants have congenital heart defects.
The most common heart defect is patent ductus arteriosus, a condition in which the passage (ductus) between the blood vessel that leads to the lungs (pulmonary artery) and the major artery of the body (aorta) fails to close after birth.
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.
Speech development is especially delayed in children with cri du chat syndrome.