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Primary ciliary dyskinesia (PCD), with synonyms that include Kartagener syndrome, is described in the packet as a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of people with PCD are described as having an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). Onset categories listed are neonatal, infantile, childhood, congenital, and adult. Numbered subtypes are listed in the packet, indicating multiple genetic forms. The respiratory system and ear are the listed affected systems.
Findings below carry the packet's HPO frequency wording.
Respiratory: Neonatal respiratory distress, recurrent sinopulmonary infections, respiratory tract infection, productive cough, and abnormal sputum are listed as frequent (30-79%). Wheezing, atelectasis, lithoptysis, peribronchovascular interstitial thickening, and recurrent mycobacterial infections are occasional (5-29%).
Ear, nose, and throat: Chronic sinusitis, nasal polyposis, nasal congestion, chronic rhinitis, and chronic or recurrent otitis media are frequent (30-79%). Hearing impairment, including conductive hearing impairment, and delayed speech and language development are occasional (5-29%).
Reproductive: Male infertility and abnormal sperm motility are frequent (30-79%); female infertility is occasional (5-29%).
Laterality and cardiovascular: Pulmonary situs ambiguus and abnormal cardiovascular system morphology are occasional (5-29%).
The packet does not list certified genes for this condition, and no inheritance pattern is certified, so the genetic basis and mode of inheritance are not described here. The packet describes the condition as genetically heterogeneous and lists numbered subtypes, which indicates that more than one genetic form is recognized.
No diagnostic methods or newborn screening information are certified in this packet.
Coverage of treatment is not certified in this packet: no foundational therapies or FDA-approved treatments are listed. The packet records several investigational products with orphan drug designation for PCD; a designation is not a marketing approval.
28 trials found
Prognosis is not certified in this packet.
Numerous certified active trial records are present in the packet. Examples include NCT05889013, "Utility of PCD Diagnostics to Improve Clinical Care" (recruiting; Connecticut Children's Medical Center); NCT00807482, "Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease" (recruiting; University of North Carolina, Chapel Hill); and NCT07699302, "Clearance in Primary Ciliary Dyskinesia" (not yet recruiting; University of North Carolina, Chapel Hill). The packet's intervention summary lists gene therapy, medical device, procedural, and other intervention types among the records. Trial titles do not establish that an intervention is effective. Active clinical trials for this condition are listed on ClinicalTrials.gov.
Data assembled from 6 of 12 sources · Last updated Nov 2, 2026, 11:07 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning primary ciliary dyskinesia
Updated Sep 28, 2026
A systematic review highlights the potential of artificial intelligence and digital tools in the screening, diagnosis, and characterization of primary ciliary dyskinesia. This research could enhance diagnostic accuracy and patient management for this rare condition.
ReCode Therapeutics appoints a new CEO to lead its efforts in advancing clinical programs for cystic fibrosis and primary ciliary dyskinesia. This leadership change follows the company's recent clinical validation earlier this year.
A recent case series from the SV-ONE Registry highlights the clinical characteristics of patients with Fontan circulation and primary ciliary dyskinesia. This study provides valuable insights into the intersection of these two rare conditions.
A recent study highlights the occurrence of pulmonary exacerbations in patients with primary ciliary dyskinesia, shedding light on the respiratory challenges faced by this population. Understanding these exacerbations is crucial for improving patient management and outcomes.