(Klein-Waardenburg syndrome, Waardenburg-Shah syndrome)
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.
- 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
- abnormal pigmentation of the skin (vitiligo plaques)
- prominent nasal root or hypoplasia of the wings of the nose
- 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)
according to the mode of presentation and the associated abnormalities.
- 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