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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 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).
Less common findings associated with cri du chat syndrome include the development of a tear in the supportive tissue of the lower abdomen (inguinal hernia) allowing a portion of the intestines to protrude out; the passage or flowing back (reflux) of the contents of the stomach or small intestines (duodenum) into the esophagus (gastroesophageal reflux); abnormalities of the kidney and urinary tract; respiratory difficulties; webbing of the fingers and toes (syndactyly); abnormal bending or curving of the pinkies inward toward the fourth finger (clinodactyly); clubfeet; and structural anomalies of the voice box (larynx).
Moderate to severe intellectual disability is present in most cases.
NORD gratefully acknowledges Scott Pentiuk MD, Assistant Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, and Adam Mezoff, MD, Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, for assistance in the preparation of this report.
Summary 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).
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.