Ciliary dyskinesia, primary, 3

Common Name(s)

Ciliary dyskinesia, primary, 3

Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus ({1:Afzelius, 1976}; {2:El Zein et al., 2003)}.
 

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Following organizations serve the condition "Ciliary dyskinesia, primary, 3" for support, advocacy or research.

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Scientific Literature

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