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A genetic error of the respiratory cilia (9 + 2) is the cause of the airways disease named immotile\u2010cilia syndrome (or PCD), whereas defective ependymal cilia (9 + 2) carries an increased risk of hydrocephalus. When the so\u2010called nodal cilia (9 + 0) of the early embryo are malfunctioning, there is a random determination of asymmetry of the heart and visceral organs (\u2018a 50% risk of situs inversus\u2019). Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive degeneration of ciliary structures, such as the connecting cilium (9 + 0) of the photoreceptor cells\u2014this is the cause of retinitis pigmentosa. Ciliary malfunctions due to genetic errors tend to be systemic and life\u2010long, whereas acquired diseases are local and may be temporary only. Copyright \u00a9 2004 Pathological Society of Great Britain and Ireland. 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