Cri du chat syndrome
| Cri du chat, or Cri-du-chat syndrome | |
|---|---|
| Other names |
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| Facial features of a person with Cri du chat syndrome at the age of 8 months (A), 2 years (B), 4 years (C) and 9 years (D) | |
| Specialty | Medical genetics |
| Complications | Swallowing problems, heart defects, intellectual disability, difficulties with sucking, talking difficulties, developmental delay |
| Usual onset | At birth (congenital) |
| Causes | Chromosomal deletion |
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.