What is Cri du Chat?
Our bodies are made up of chromosomes that contain thousands of genes. In Cri du Chat Syndrome, a small piece of chromosome 5 is missing. That missing genetic information affects development, but the amount of chromosome missing can vary greatly from person to person. This is one reason symptoms and abilities differ so much among individuals.
Cri du Chat (pronounced kree du shah) is a rare genetic disorder caused by a deletion of part of the short arm (p arm) of chromosome 5. Also known as 5p- syndrome. It affects approximately 1 in 50,000 live births, making it a rare diagnosis that many people never heard of.
The condition gets its name from the distinctive high-pitched, cat-like cry that many babies have at birth. This cry is often one of the earliest signs.
Cri du Chat is NOT caused by anything the parent did or didn't do. 85-90% of cases are de de novo, meaning the deletion happens randomly and it is not inherited.