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Kartagener’s Syndrome: A Rare Genetic Disorder

written by: Rafael•edited by: Paul Arnold•updated: 10/12/2008

Kartagener’s syndrome is a rare genetic disorder also known as PCD. What causes it? What are the symptoms? How is PCD treated? Find out below.

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    Kartagener’s Syndrome

    Kartagener’s Syndrome (KS), also known as Primary Ciliary Dyskinesia (PCD), is a rare genetic disorder that affects the function of cellular organelles known as cilia (which resemble microscopic hairs) of the upper and lower respiratory tract, the middle ear and the reproductive organs. The result of this rare genetic disorder is absence or reduction in the mobility of the cilia, which in turn causes reduction or absence of mucus clearance and increased susceptibility to respiratory problems such as infections, sinusitis and bronchitis.

    The true incidence of the disease is unknown, but it has been estimated that 1 in 32,000 people have this rare genetic disorder (NIH, 2008). However, others believe that the actual incidence may be as high as 1 in 16,000.

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    Symptoms and Signs

    The main problem with PCD (Kartagener’s syndrome) is related to respiratory function. Also, patients usually experience hearing loss and a poor sense of smell, which are all related to having strong ciliary functions. Infertility is common in PCD patients because of the defective ciliary function in the fallopian tube (females) or diminished sperm motility in males.

    People with Kartagener’s syndrome may have a condition known as “situs inversus totalis" - that is a mirror-image reversal of all visceral organs with no apparent physiological consequences.

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    This rare genetic disorder is caused by a defect in the genes that code for the proteins that make up the cilia. They are actually complex cellular organelles made up of more than 250 proteins. Any defect in those proteins may cause a disorder such as Kartagener’s syndrome.

    Research has shown that there are two genes that account for 38% of PCD genetic disorder. These genes are named DNAH1, which encodes for a protein called ciliary dynein heavy chain 1 (10% of PCD), and DNAH5, which encodes for a protein called ciliary dynein heavy chain 5 (28% of PCD). However, 62% of Kartagener’s or PCD patients do not have an identifiable mutations in either of the two known genes. So there must be other genes involved.

    PCD is inherited in an autosomal recessive manner, which means that at conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.

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    At present, there is no cure for Kartagener’s syndrome. Patients need to manage this rare genetic disease by a combination of therapies and medications. Strategies and measures to enhance clearance of mucus and prevent respiratory infections, and treat bacterial infections are the main guidelines followed by PCD patients.

    Treatments includes:

    • Chest percussion and breathing maneuvers to facilitate clearance of breathing airways
    • Vigorous exercise that promotes deep breathing and cough
    • Routine immunizations to enhance immunity against respiratory pathogens
    • Immediate antibiotic medications for bacterial infections of the airways (nose, lings, ears)
    • Sinus surgery to facilitate drainage.

    Little research is being conducted on this rare genetic disorder. It is often misdiagnosed and even missed as a possible cause for people experiencing many of the signs and symptoms mentioned above.

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    Afzelius BA. 1976. A human syndrome caused by immotile cilia. Science. 193(4250):317

    NIH 2008. Primary Ciliary Dyskinesia (PCD). At:

    Primary Ciliary Dyskinesia

Rare genetic disorders

Learn about rare genetic disorders: causes, symptoms and signs, and treatment options for each one.
  1. Kartagener’s Syndrome: A Rare Genetic Disorder
  2. Genetics of Tay-Sachs Disease