Molecular Vision: Hazan, Mol Vis 2013; 19:196-202. Table 2

Table 2. Diagnostic criteria of WS, and clinical evaluation of affected family members. Two major, or one major and two minor criteria have to be found in an individual to be diagnosed as WS

DIAGNOSTIC CRITERIA	FEATURES	STUDY PARTICIPANTS
DIAGNOSTIC CRITERIA	FEATURES	II-3	III-5	III-7	III-9	IV-3	IV-4	IV-5	IV-6
MAJOR CRITERIA	Sensorineural hearing loss	-	+	-	+	-	-	+	+
	Iris pigmentary abnormality (heterochromia iridis, or segmentary heterochromia of the iris, or characteristic brilliant blue iris)	-	+	+	+	-	-	+	+
	Hair hypopigmentation (white forelock, white hairs at other sites on the body)	-	-	-	-	-	-	-	-
	Dystopia canthorum	+	+	+	+	+	+	+	+
	First-degree relative previously diagnosed with Waardenburg syndrome	+	+	+	+	+	+	+	+
MINOR CRITERIA	Skin hypopigmentation	-	-	-	+	-	-	-	-
	Synophrys	+	+	+	+	-	+	-	-
	Broad nasal root	-	-	-	-	+	-	+	+
	Hypoplasia alae nasi	+	-	+	-	-	-	-	+
	Premature graying of the hair (before the age of 30 years)	+	+	+	+	N/A	N/A	N/A	N/A