Cri du chat syndrome

In the rare cri du chat syndrome (cat's cry syndrome, 5p minus syndrome), part of chromosome 5 is missing.

An infant with this syndrome is usually underweight at birth; has a small head with many abnormal features, including a round face, small jaw, wide nose, widely separated eyes, and ears set low in the head; and has a high-pitched cry that sounds like a kitten crying.

Often the infant seems limp. The high-pitched cry occurs immediately after birth, lasts several weeks, and then disappears. Heart defects are common. Mental and physical development are greatly retarded.

Despite these abnormalities, many children with cri du chat syndrome survive to adulthood.