Waardenburg syndrome

Also known as: Klein–Waardenburg syndrome

Pigmentary abnormalities with sensorineural deafness.

Medical specialty: Dermatology
Subspecialty: Dermatology / Pigmentary disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, from birth
Gene(s) involved: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

Etiology & mechanism

Neural crest melanocyte developmental defect.

Gene(s) involved (6)

EDN3EDNRBMITFPAX3SNAI2SOX10

Symptoms & signs (6)

dystopia canthorumheterochromia iridishirschsprung diseasehypopigmented patchessensorineural deafnesswhite forelock

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.