Medical Dictionary


noun cil·i·op·a·thy \ˌsi-lē-ˈä-pə-thē\

Medical Definition of ciliopathy



  1. :  any of a group of genetic disorders (such as Bardet-Biedl syndrome, polycystic kidney disease, or retinitis pigmentosa) that are caused by the abnormal formation or function of cellular cilia and often share common features (such as brain anomalies, retinal degeneration, renal or liver dysfunction, polydactyly, and cognitive impairment) Ciliopathy symptoms often vary in severity, and, unlike many inherited diseases, they are not always caused by mutations in a single gene.—Claire Ainsworth, Nature, 9 Aug. 2007

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