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Affected children usually understand speech better than they can communicate. Speech development is especially delayed in children with cri du chat syndrome. Moderate to severe intellectual disability is present in most cases. About half of children with cri du chat syndrome were able to dress themselves by age 5 years.
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Psychomotor disability is a delay in the acquisition of skills requiring mental and muscular activities such head control, sitting up, and walking. Most affected infants also display some degree of psychomotor and intellectual disability. As affected infants age the face may lose its plumpness and become abnormally long and narrow. In addition, the fleshy mass (uvula) that hangs in the back of the throat may be spilt (bifid uvula). Improper alignment of the upper and lower teeth (malocclusion) may also occur.Īdditional 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.
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The cry, which resembles the mewing of a cat, becomes less pronounced as affected infants grow older.Īffected 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.ĭistinctive facial features may include an abnormally round or plump (moon) face, a broad nasal bridge, widely spaced eyes (hypertelorism), crossed eyes (strabismus), downwardly slanting eyelid folds (palpebral fissures), vertical skin folds that may cover the eyes’ inner corners (epicanthal folds), low-set ears, and an abnormally small jaw (micrognathia). The characteristic high-pitched, shrill cry associated with cri du chat syndrome is present during the first few weeks of life. The symptoms of cri du chat syndrome vary from case to case. In French, Cri du chat translates into “cry of the cat”. The disorder was first described in the medical literature in 1963 by doctor Lejeune who named the disorder after the distinctive cat-like cry. Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development. Additional symptoms affecting different organ systems of the body can also occur. 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. 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.
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Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. 5 Myths About Orphan Drugs and the Orphan Drug ActĬri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic).Information on Clinical Trials and Research Studies.