immotile cilia syndrome


im·mo·tile cil·i·a syn·drome

[MIM*242650] an inherited disorder characterized by recurrent sinopulmonary infections, reduced fertility in women, and sterility in men due to the inability of ciliated structures to beat effectively because of the absence of one or both dynein arms; autosomal recessive inheritance. Compare: Kartagener syndrome.

immotile cilia syndrome

(1) Primary ciliary dyskinesia, see there.
(2) Kartagener syndrome, OMIM:244400.

immotile cilia syndrome

Kartagener syndrome An uncommon–1:20 000 AR disease of childhood onset due to defective or afunctional cilia in the respiratory tract, resulting in chronic sinusitis, defective mucociliary transport and bronchial clearance, bronchiectasia, chronic otitis media and incapacitating headaches, related to immotility of ependymal cilia in the walls of cerebral ventricles; other defects associated with IC include cardiovascular, renal and ocular defects, and absence of frontal sinuses Reproduction ♂ are infertile,12 of ♀ are impregnatable, the other12 sterile;12 have Kartagener's triad, ie chronic sinusitis, bronchiectasis and situs inversus totalis, the last of which may be due to an in utero defect with contrary beating cilia. See Cilia.