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A child with unilateral sensorineural hearing loss has bright blue eyes with heterochromia (one blue, one brown), a white forelock, and widely spaced inner canthi.
AD (most types)
- Type 1: PAX3 - dystopia canthorum present
- Type 2: MITF, SNAI2 - no dystopia canthorum
- Type 3 (Klein-Waardenburg): PAX3 - limb abnormalities
- Type 4 (Waardenburg-Shah): EDNRB, EDN3, SOX10 - with Hirschsprung
- Sensorineural hearing loss (variable, often unilateral)
- Pigmentary abnormalities:
- White forelock
- Heterochromia iridis or brilliant blue eyes
- Depigmented skin patches
- Dystopia canthorum (lateral displacement of inner canthi) - type 1
- Clinical diagnosis based on sensorineural hearing loss plus pigmentary findings; dystopia canthorum (measured by W index) separates type 1 from type 2
- Audiometry to characterize and quantify hearing loss
- Gene panel (PAX3, MITF, SOX10, EDNRB, EDN3, SNAI2) confirms diagnosis and assigns type
- Evaluate for Hirschsprung disease when type 4 (Waardenburg-Shah) is suspected
- Hearing rehabilitation: hearing aids or cochlear implants, plus early language/educational support
- Photoprotection and dermatologic monitoring of depigmented skin
- Genetic counseling (most types autosomal dominant; type 4 can be recessive)
Gene, "Prison Warden carries an AX": The Waardenburg "prison warden" carries an AX (PAX3), the gene for type 1. The warden is wearing a hearing aid (sensorineural hearing loss) and has a white forelock (pigmentary anomalies due to abnormal melanocyte migration)