This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Waardenburg's syndrome is probably a disorder of neural crest migration which is inherited in an autosomal dominant manner.

The disorder has been mapped to the distal part of chromosome 2. Some families show mutations in the gene Pax-3 which is involved in directing embryological development.

Notes:

  • Waardenburg syndrome is the most common type of hearing loss inherited as autosomal dominant trait
    • four types of WS have been distinguished, depending on the presence of other abnormalities
      • patients with WS type 1 (WS1) present mutation within Paired Box 3 (PAX3) gene, however it has been shown to be present in only 45% of the WS1 syndrome. Heterozygous mutations of this gene have been reported in both sporadic and familial cases

Reference:

  • Gad A, Laurino M, Maravilla KR, Matsushita M, Raskind WH. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of waardenburg syndrome? Am J Med Genet. 2008;7:1880-1885.

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.