Diagnosis is based on the distinctive cry and accompanying physical problems. These common symptoms are quite easily observed in infants. Affected children are typically diagnosed by a doctor at birth. Genetic counseling and genetic testing may be offered to families with individuals who have<unk> . Prenatally the deletion of the<unk> <unk> <unk>  related region in the p arm of chromosome 5 can be detected from amniotic fluid or chorionic villi samples with BACs-on-Beads technology. G-banded karyotype of a carrier is also useful.
Cri du chat syndrome
Lazarus syndrome
Lucey–Driscoll syndrome
Pork–cat syndrome
Woodhouse–Sakati syndrome
ANOTHER syndrome
Roemheld syndrome
Johanson–Blizzard syndrome