This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Pathophysiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Pathophysiology

  • pathophysiology of Bardet-Biedl syndrome is still largely unknown but it appears that cilia dysfunction lies at the centre of the condition. The abnormal cilia are spread throughout the body are involved with numerous functions including cell signalling and embryological development. Other diseases that may be due to cilia dysfunction include (1):
    • polycystic kidneys
    • retinitis pigmentosa
    • situs invertus
    • kartagener's syndrome

Reference:

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed 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.