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Cri du Chat Syndrome
Abstract
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NORD is very grateful to 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.
Synonyms of Cri du Chat Syndrome
- 5p- syndrome
- Cat's Cry Syndrome
- CdCS
- Lejeune syndrome
Disorder Subdivisions
- No subdivisions found.
General Discussion
Cri 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). 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. 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. Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development.
Organizations related to Cri du Chat Syndrome
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