Waardenburg syndrome type 1
Jump to navigation
Jump to search
Genetics
- autosomal dominant
- associated with defects in PAX3
Clinical manifestations
- wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum)
- pigmentary disturbances such as frontal white blaze of hair, iris heterochromia, white eyelashes, leukoderma
- sensorineural deafness (variable)
- syndrome shows variable clinical expression