Abstract: Primary ciliary dyskinesia (PCD) is a rare genetic disease in which defects of ciliary ultrastructure and malfunction lead to multi-system manifestations including bronchiectasis, sinusitis, otitis media, situs inversus, infertility and so on. Although there is no gold standard for diagnosis of PCD, in most cases, the diagnosis of PCD requires a concordant clinical phenotype and a series of tests such as nasal nitric oxide to be distinctly low, or high-speed video microscopy to reveal abnormal ciliary beat pattern or transmission electron microscopy to define ciliary ultrastructural defects and so on.