Table of Contents
Waardenburg Syndrome
Main Features
Eye Findings
Other Findings
Etiology
Resources
Waardenburg Syndrome
Main Features
Congenital sensorineural hearing loss
White forelock
Hair hypopigmentation
Iris pigmentary abnormality
Eye Findings
Iris pigmentary abnormality
Complete heterochromia
Segmental heterochromia
Complete hypoplastic blue iridies
Telecanthus
Choroidal hypopigmentation
Other Findings
Skin hypopigmentation
Synophrys/medial eyebrow flare
Nasal anomalies
broad high nasal root
prominent columella
hypoplastic nasal alae
Premature gray hair (age <30 years)
Hirschsprung disease
Cleft lip and palate
Spina bifida
Etiology
Autosomal Dominant
Mutations in PAX3, MITF, SNAI2, SOX10, EDN3, EDNRB genees
Resources
Waardenburg syndrome: iris and choroidal hypopigmentation, findings on anterior and posterior segment imaging. Shields CL et al. JAMA Ophthalmol. 2013;131(9):1167-1173
Waardenburg Syndrome in Medline Plus
syndrome