The occurrence of WS has been reported to be one in 45,000 in Europe. The diagnosis can be made prenatally by ultrasound due to the phenotype displaying pigmentary disturbances, facial abnormalities, and other developmental defects. After birth, the diagnosis is initially made symptomatically and can be confirmed through genetic testing. If the diagnosis is not made early enough, complications can arise from Hirschsprung's disease.
ABCD syndrome
EAST syndrome
TEMPI syndrome
HAIR-AN syndrome
RIDDLE syndrome
IPEX syndrome
CLOVES syndrome
MELAS syndrome