Waardenburg Syndrome
- autosomal dominant
- partial albinism (commonly expressed as white forelock and/or
pale-blue eyes)
- medial flare of eyebrows/synophrys, heterochromic irises, increased
distance between inner canthi (dystopia canthorum)
- hearing deficit or deafness
- broad and high nasal bridge with hypoplastic alae nasi
- broad mandible
- rarer manifestations: premature greying of hair, true hypertelorism, cleft
lip and palate, Hirschsprung's disease and congenital heart defects
- type I: dysopia canthorum, 25% deaf, Gene locus 2q37
- type II: no dystopia canthorum, 50% deaf, gene locus 3p12-14
CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes