(Klein-Waardenburg syndrome, Waardenburg-Shah syndrome)

Rare.

Many types

• I or WS1: PAX3 gene on 2q35
• IIa or WS2a: MITF gene on 3p14.1-p12.3
• IIb or WS2b: WSS2B gene on 1p21-p13.3
• IIc or WS IIc: WS2C gene on 8p23
• IId or WS2D: SNA/2 gene on 8q11
• III: PAX3 gene on 2 q35 (Klein-Waardenburg)
• IV:  EDNRB, EDN3, SOX10 genes on 22q13, 20q13.2: (Waardenburg-Shah).

Autosomal dominant transmission with variable penetrance except II and IV (Waardenburg-Shah) which are recessive. Causes a lack of melanocytes in skin, hair, eyes and inner ear.

Major criteria

-        dystopia of the canthi ( internal canthus of each eye is displaced laterally) (type I)

-        abnormalities of pigmentation: white hair (from birth), white eyelashes/eyebrows, heterochromia of iris (or sapphire blue eyes)

-        sensorineural deafness

-        family history

Minor criteria

-        abnormal pigmentation of the skin (vitiligo plaques)

-        prominent nasal root or hypoplasia of the wings of the nose

Sometimes

-        cleft lip or palate

-        congenital scapular elevation

-        spina bifida, scoliosis

-        heart defect.

-        Hirschsprung disease (type IV, Waardenburg-Shah syndrome)

-        neurological problems: pyramidal syndrome, epilepsy (type IV, Waardenburg-Shah syndrome)

Anesthetic implications:

according to the mode of presentation and the associated abnormalities.

References:

-        Kfoury T, Staiti G, Bancroft C, Beasley D.
Pudendal nerve block by nerve stimulation in a child with Waardenburg disease.
Pediatr Anesth 2008; 18: 1267-8.

Updated: September 2018