Ciliopathies are rare diseases in which the formation or function of cilia, cylindrical-shaped extensions found on the surface of many cells, is altered. There is a high degree of ciliary specialization, ranging from motile cilia of the respiratory epithelium to primary cilia—necessary for neurodevelopment or the formation of many organs—and neurosensory cilia of the ear and the retina. Some proteins are common to several types of cilia while others are tissue-specific, so ciliopathies may or may not be associated with a particular syndrome.
This article was originally published on MedicalXpress.com
