Cri du chat syndrome

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 (sound sample ). 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.

Cri du chat, or Cri-du-chat
Other names
  • Chromosome 5p deletion syndrome
  • 5p− syndrome
  • Lejeune's syndrome
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)
SpecialtyMedical genetics
CausesChromosomal Mutation
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