Disease Information for Immotile cilia syndrome/Youngs syndrome

Clinical Manifestations
Signs & Symptoms
Epididymal mass/lump
Bronchospasm signs
Cough Chronic
Cough Chronic Productive
Cough, productive
Recurrent chest infections/bronchitis/sign
Recurrent URI/Colds/LRI infections
Voluminous phlegm production
Nasal discharge
Nasal mucosal involvement/irritation
Nose blocked/stuffy
Post-nasal drip/catarrh
Runny nose/rhinorrhea
Clinical Presentation & Variations
Presentation/Recurrent respiratory infections
Presentation/Recurrent Bronchitis LRI
Presentation/Recurrent pneumonia Child
Presentation/Recurrent Sinusitis
Presentation/Resistant Sinusitis Poor control
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Past History
Past history/Pneumonia
Established Disease Population
Patient/Situs inversus
Population Group
Population/Pediatrics population
Family History
Family history/Lung disease
Family history/Lung disease/unusual type
Sex & Age Groups
Laboratory Tests
Abnormal Lab Findings (Non Measured)
SEMEN Analysis Abnormal
Abnormal Lab Findings - Increased
SEMEN Sperm count
Diagnostic Test Results
Other Tests & Procedures
TEST/Ciliary dyskinesia ( Nasal/Bronchial wash) abn
BX/Nasal mucosa biopsy/abnormal
BX/Sinus Abnormal
Associated Diseases & Rule outs
Rule Outs
Asthma Children
Associated Disease & Complications
Bronchitis, acute
Bronchitis, chronic
Cilia dysfunction/tracheobronchial syndrome
Immotile cilia syndrome
Infertility/sterility male
Kartagener's syndrome
Maxillary sinusitis/Antrum sinusitis
Middle lobe pneumonia
Middle lobe syndrome
Nasal obstruction
Pneumonia, recurrent
Pneumonia, unresolved/Chronic
Sinusitis, chronic
Upper respiratory infection/cold/URI
Asthma Children
Disease Mechanism & Classification
CLASS/Epididymis involvement/disorder (ex)
CLASS/Pulmonic (category)
CLASS/Maxillary sinus involvement/disorder (ex)
CLASS/Cilia disorder (ex)
Pathophysiology/Gene locus 5p15-p14
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene locus Chromosome 5p
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/Blockage/epididymal tubules
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
Cilia Syndrome Immotile, Cilia Syndromes Immotile, Ciliary Dyskinesia, CILIARY DYSKINESIA PRIMARY, Ciliary Dyskinesias, CILIARY MOTILITY DIS, Ciliary Motility Disorder, Ciliary Motility Disorders, Disorder Ciliary Motility, Disorders Ciliary Motility, Dyskinesia Ciliary, Dyskinesias Ciliary, Dysmotile cilia syndrome, ICS, ICS Immotile cilia syndrome, Immotile cilia syndrome, Immotile cilia syndrome (disorder), Immotile Cilia Syndromes, PCD, PCD Prim ciliary dyskinesia, PCD Primary ciliary dyskinesia, POLYNESIAN BRONCHIECTASIS, Primary ciliary dyskinesia, Primary ciliary dyskinesia RETIRED, Syndrome Immotile Cilia, Syndromes Immotile Cilia, Synonym/Primary cilia dyskinesia/PCD variant, Synonym/Youngs syndrome

Ciliary dyskinesia syndrome,(also called immotile cilia syndrome), disorder characterized by abnormal ciliary structure and function throughout the body; Males are infertile; The impaired mucociliary clearance is associated with recurrent upper and lower respiratory tract infections; In ciliary dyskinesia syndrome, there is an autosomal recessive pattern inheritance but there is genetic heterogeneity and discordance in phenotypic presentation; Bronchiectasis develops in childhood and adolescence and is associated with recurrent pneumonias; Radiological findings include bronchial wall thickening, bronchiectasis, overinflation and focal areas of consolidation and atelectasis; A subset of ciliary dyskinesia syndrome is Kartageners syndrome , which features situs inversus, paranasal sinusitis and bronchiectasis --------[medcyclopedia_com 2005]-------------

Primary Ciliary Dyskinesia (PCD), also known as Immotile Cilia Syndrome, is a rare genetic birth defect that involves the blocking of respiratory passages; Patients with PCD have abnormal or absent ciliary motion; Cilia are tiny hair-like structures that move mucus out of the respiratory passages; During infections more mucus is produced and because the abnormal cilia can"t move or move ineffectively, mucus becomes stuck and blocks the respiratory tract, causing various complications; PCD is commonly characterized by chronic sinusitis and bronchiectasis; Bronchiectasis occurs when the bronchial tubes are blocked and chronically infected, causing the tubes to weaken and stretch out; The widened tubes allow more mucus and bacteria to accumulate, leading to infection and possibly pneumonia; Trapped mucus can also cause difficulty breathing, wheezing, and coughing to clear the mucus; It is estimated that the prevalence of PCD is approximately 1 in 16,000 live births; Kartagener"s Syndrome is a variant of PCD that results from a combination of chronic sinusitis, bronchiectasis and situs inversus, where some of the patient"s organs are reversed; About 50 percent of patients with PCD have Kartagener"s Syndrome


External Links Related to Immotile cilia syndrome/Youngs syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)