Preferred Label : Ciliary dyskinesia with excessively long cilia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Immotile cilia syndrome due to excessively long cilia;
Description : In a 12-year-old girl with obstructive lung disease, the offspring of first-cousin
parents, Afzelius et al. (1985) found that the clinical characteristics of the immotile
cilia syndrome (see 244400), including chronic rhinitis, sinusitis, bronchitis, severely
decreased mucociliary clearance of the lungs, and nasal polyps, were associated with
nasal cilia about twice normal in length but normal in cross-sectional dimension.
*FIELD* RF 1. Afzelius, B. A.; Gargani, G.; Romano, C.: Abnormal length of cilia as
a possible cause of defective mucociliary clearance. Europ. J. Resp. Dis. 66: 173-180,
1985. *FIELD* CS Pulmonary: Obstructive lung disease; Immotile cilia; Bronchitis;
Decreased mucociliary clearance;
Inheritance : Autosomal recessive;
Prefixed ID : 242680;
Origin ID : 242680;
UMLS CUI : C0340036;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
