Search
Waardenburg syndrome type 1
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
General
Waardenburg syndrome
Database Correlations
OMIM 193500
References
UniProt :accession P23760