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Primary Ciliary Dyskinesia

Abstract

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NORD is very grateful to Maimoona Zariwala, PhD, FACMG, Research Associate Professor, Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, for assistance in the preparation of this report.

Synonyms of Primary Ciliary Dyskinesia

  • immotile cilia syndrome
  • PCD

Disorder Subdivisions

  • Kartagener syndrome

General Discussion

Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic condition in which the microscopic cells in the respiratory system called cilia do not function normally. Ciliary dysfunction prevents the clearance of mucous from the lungs, paranasal sinuses and ears. Bacteria and other irritants in the mucous lead to frequent respiratory infections. Kartagener syndrome is a type of PCD associated with a mirror-image orientation of the heart and other internal organs (situs inversus).

Organizations related to Primary Ciliary Dyskinesia

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