Primary ciliary dyskinesia
ORPHA:244· ICD-10 Q34.8
Definition
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Neonatal