Primary ciliary dyskinesia



Primary ciliary dyskinesia


Genetic disorders


Alagille syndrome (NORD)

Familial adenomatous polyposis

Familial hypercholesterolemia

Hereditary spherocytosis

Huntington disease

Li-Fraumeni syndrome

Marfan syndrome

Multiple endocrine neoplasia

Myotonic dystrophy


Polycystic kidney disease

Treacher Collins syndrome

Tuberous sclerosis

von Hippel-Lindau disease




Cystic fibrosis

Friedreich ataxia

Gaucher disease (NORD)

Glycogen storage disease type I

Glycogen storage disease type II (NORD)

Glycogen storage disease type III

Glycogen storage disease type IV

Glycogen storage disease type V


Krabbe disease


Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)

Niemann-Pick disease type C

Niemann-Pick disease types A and B (NORD)

Phenylketonuria (NORD)

Polycystic kidney disease

Primary ciliary dyskinesia

Sickle cell disease (NORD)

Tay-Sachs disease (NORD)

Wilson disease

Cri du chat syndrome

Williams syndrome

Angelman syndrome

Prader-Willi syndrome

Beckwith-Wiedemann syndrome

Mitochondrial myopathy

Klinefelter syndrome

Turner syndrome

Fragile X syndrome

Friedreich ataxia

Huntington disease

Myotonic dystrophy

Down syndrome (Trisomy 21)

Edwards syndrome (Trisomy 18)

Patau syndrome (Trisomy 13)

Alport syndrome

Fragile X syndrome

Fabry disease (NORD)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency


Lesch-Nyhan syndrome

Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)

Muscular dystrophy

Ornithine transcarbamylase deficiency

Wiskott-Aldrich syndrome

X-linked agammaglobulinemia

Autosomal trisomies: Pathology review

Miscellaneous genetic disorders: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review


Primary ciliary dyskinesia


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USMLE® Step 1 questions

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High Yield Notes

7 pages


Primary ciliary dyskinesia

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USMLE® Step 1 style questions USMLE

of complete

A 15-month-old boy is brought to the pediatric emergency department for evaluation of productive cough and fever. The patient has had multiple prior emergency department visits due to similar symptoms, which resolved with high-dose antibiotic therapy. He was born at 38-weeks gestational age via an uncomplicated vaginal delivery to a 30-year-old woman. Family history is significant for similar symptoms in the patient’s older sister. Temperature is 38.7°C (101.7°F), pulse is 110/min, respirations are 40/min, and blood pressure is 90/50 mmHg. Physical examination reveals an ill-appearing child with mildly enlarged tonsils without erythema or exudates. Bilateral rales and rhonchi are heard on lung auscultation, and the point of maximal impulse is displaced to the right side of the chest. A chest CT shows bilateral hyperinflation of lungs and significant peribronchial thickening. Which of the following best describes the pathophysiology of this patient’s condition?

External References

First Aid









Kartagener syndrome p. 47, 714

Ectopic pregnancy p. NaN

Kartagener syndrome p. 47


Kartagener syndrome p. 47, 714

Kartagener syndrome p. 47, 286

infertility with p. 659

obstructive lung disease p. 700

presentation p. 714


Kartagener syndrome p. 47, 714


Primary ciliary dyskinesia (PCD) also called kartagener syndrome or immotile cilia syndrome is a rare genetic disorder characterized by impairment of the action of cilia lining the respiratory tract, Eustachian tube, fallopian tube, as well as in the flagella of sperm cells. This can lead to recurrent respiratory infections, chronic cough, sinusitis, otitis media and infertility. There is no cure for PCD, but treatments can help manage symptoms and prevent complications.


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