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.
The characteristic high-pitched, shrill cry associated with cri du chat syndrome is present during the first few weeks of life.
The cry, which resembles the mewing of a cat, becomes less pronounced as affected infants grow older.
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.
Distinctive 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).
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.
In addition, the fleshy mass (uvula) that hangs in the back of the throat may be spilt (bifid uvula).
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.
Cri du chat syndrome (Cd CS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic).
Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material.
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.