History and Prevalence of Cri du Chat Syndrome
Cri du Chat syndrome was first identified in 1963 by Dr. Jerome Lejeune. Dr Lejeune was a French paediatrician and geneticist. However, it was later that the genetic mechanism of the disorder was identified.
Cri du Chat syndrome is a rare genetic disorder that affects approximately 1 in 37,000 to 50,000 people.
Females outnumber males by a ratio of approximately 4 females to every 3 males.
‘Cri du Chat’ translates as ‘cry of the cat’ so named because of a distinctive ‘cat-like’ high-pitched cry which is unique in infants with the syndrome.
The syndrome is also known as 5p- syndrome and chromosome five short arm deletion, which refers to the chromosomal deletion that leads to the disorder.
Some families and professionals in the USA and other countries prefer to use the name 5p- syndrome while in the UK the name Cri du Chat syndrome is still used. While we acknowledge and understand the decision to use 5p- syndrome, we have chosen to use the name Cri du Chat syndrome on this website for consistency with the UK support groups and other charities that currently use this name.