Cri du Chat Syndrome

Cri du chat syndrome is a rare genetic disorder caused by a partial deletion on chromosome 5, first identified by Jerome Lejeune in 1963. Its name comes from the French for cat-cry, referring to the characteristic high-pitched vocalization affected infants produce, and the condition affects approximately 1 in 22,000 live births, slightly more often in females. Common complications include swallowing and sucking difficulties, heart defects, speech difficulties, and intellectual disability and developmental delay, and roughly 10 percent of affected children die, mostly within the first year of life.