Waardenburg syndrome type 2D


Waardenburg syndrome type 2D

A genetically heterogeneous, autosomal dominant disorder (OMIM:608890) characterised by sensorineural deafness, pigment defects and absent dystopia canthorum.
Molecular pathology
Caused by defects of SNAI2, which encodes a zinc finger transcription repressor involved in epithelial-mesenchymal transitions and in the generation and migration of neural crest cells.