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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 some cases, nearsightedness (myopia) and cataracts may develop.
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 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.