Primary Ciliary Dyskinesia

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2007 Jan 24 [updated 2025 May 22].

Authors

Maimoona A Zariwala¹, Katherine A Despotes², Stephanie D Davis³

Book Editors

Margaret P Adam, Sarah Bick, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya

Affiliations

¹ Department of Pediatrics, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
² Department of Pediatrics, Pediatric Pulmonary, Department of Medicine, Pulmonary and Critical Care Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
³ UNC Children’s;, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina

PMID: 20301301
Bookshelf ID: NBK1122

Excerpt

The purpose of this overview is to:

1
Briefly describe the clinical characteristics of primary ciliary dyskinesia (PCD);
2
Review the genetic causes of PCD;
3
Review the differential diagnosis of PCD with a focus on genetic conditions;
4
Provide an evaluation strategy to identify the genetic cause of PCD in a proband (when possible);
5
Review management of PCD;
6
Inform genetic counseling of family members of an individual with PCD.

Copyright © 1993-2026, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved. Test.

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