Primary ciliary dyskinesia




Primary ciliary dyskinesia


Population genetics

Mendelian genetics and punnett squares

Hardy-Weinberg equilibrium

Inheritance patterns

Independent assortment of genes and linkage

Evolution and natural selection

Genetic disorders

Down syndrome (Trisomy 21)

Edwards syndrome (Trisomy 18)

Patau syndrome (Trisomy 13)

Fragile X syndrome

Huntington disease

Myotonic dystrophy

Friedreich ataxia

Turner syndrome

Klinefelter syndrome

Prader-Willi syndrome

Angelman syndrome

Beckwith-Wiedemann syndrome

Cri du chat syndrome

Williams syndrome

Alagille syndrome (NORD)


Polycystic kidney disease

Familial adenomatous polyposis

Familial hypercholesterolemia

Hereditary spherocytosis

Huntington disease

Li-Fraumeni syndrome

Marfan syndrome

Multiple endocrine neoplasia

Myotonic dystrophy


Treacher Collins syndrome

Tuberous sclerosis

von Hippel-Lindau disease


Polycystic kidney 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


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

Krabbe disease


Niemann-Pick disease types A and B (NORD)

Niemann-Pick disease type C

Primary ciliary dyskinesia

Phenylketonuria (NORD)

Sickle cell disease (NORD)

Tay-Sachs disease (NORD)



Wilson disease

Fragile X syndrome

Alport syndrome

X-linked agammaglobulinemia

Fabry disease (NORD)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency


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

Lesch-Nyhan syndrome

Muscular dystrophy

Ornithine transcarbamylase deficiency

Wiskott-Aldrich syndrome

Mitochondrial myopathy

Autosomal trisomies: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review

Miscellaneous genetic disorders: 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

of complete


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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