Ontology highlight
ABSTRACT:
SUBMITTER: Bondurand N
PROVIDER: S-EPMC2276340 | biostudies-literature | 2007 Dec
REPOSITORIES: biostudies-literature
Bondurand Nadege N Dastot-Le Moal Florence F Stanchina Laure L Collot Nathalie N Baral Viviane V Marlin Sandrine S Attie-Bitach Tania T Giurgea Irina I Skopinski Laurent L Reardon William W Toutain Annick A Sarda Pierre P Echaieb Anis A Lackmy-Port-Lis Marilyn M Touraine Renaud R Amiel Jeanne J Goossens Michel M Pingault Veronique V
American journal of human genetics 20071022 6
Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. Depending on additional symptoms, WS is classified into four subtypes, WS1-WS4. Absence of additional features characterizes WS2. The association of facial dysmorphic features defines WS1 and WS3, whereas the association with Hirschsprung disease (aganglionic megacolon) characterizes WS4, also called "Waardenburg-Hirschsprun ...[more]