Waardenburg syndrome
Pronunciation: văr-den-bergdisorder characterized by lateral displacement of inner canthi (dystopia canthorum), broad nasal root, heterochromia iridis, sensory hearing impairment, white forelock, and synophrys; autosomal dominant inheritance with type 1 distinguished from type 2 by the presence of dystopia canthorum. Types 1 and 3 are caused by mutation in the PAX3 gene on chromosome 2q, whereas some cases of type 2 are caused by mutation in the microphthalmia transcription factor gene (MITF) on 3p. Type 4 is caused by mutations of EDNB on 13q, EDN3 on 20q, or SOX10 on 22q.
 |
Link to Page |  |
Print Page |  |
Email Page |
