Cri du chat syndrome (chromosom 5p deletion syndrome, 5p minus syndrome, CDC-Syndrom, Lejeune syndrome)

This syndrome is named after the cat-like crying sounds (French: cri du chat = call of the cat) made by affected infants. About one in every 50,000 children is born with it. The symptoms are due to a missing portion on one of the short arms of chromosome 5.The syndrome is characterised by the meowing sounds made by the infants, poor growth, small size and persistent, well below average weight, microcephaly and mental retardation. The children often have difficulty swallowing and sucking. Around 50 per cent of the children also have heart defects. These are mainly atrial or ventricular septal defects but the malformations can also be more complex. The patients have a low life expectancy and about 10 per cent die within their first year of life, mainly those with severe heart defects.