National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Kartagener syndrome


Other Names:
Dextrocardia bronchiectasis and sinusitis; Siewert syndrome; Immotile cilia syndrome, Kartagener type; Dextrocardia bronchiectasis and sinusitis; Siewert syndrome; Immotile cilia syndrome, Kartagener type; Primary ciliary dyskinesia, Kartagener type; Dextrocardia-bronchiectasis-sinusitis syndrome; Primary ciliary dyskinesia and situs inversus See More
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Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility.[1][2][3] It can be cause by changes (mutations) in many different genes that are inherited in an autosomal recessive manner. Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown.[4][2] There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics.[1][2][3]
Last updated: 2/2/2015
Kartagener syndrome is characterized by primary ciliary dyskinesia and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this condition typically does not cause any health problems.[1][2]

The signs and symptoms of primary ciliary dyskinesia vary, but may include:[1][2][3]
Last updated: 2/1/2015
Kartagener syndrome can be caused by changes (mutations) in many different genes. These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs. The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome.[1][4][3]

Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases.[1][4][3]
Last updated: 2/1/2015
Kartagener syndrome is inherited in an autosomal recessive manner.[4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 2/1/2015
Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue (biopsy) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change (mutation) is known, genetic testing can also be used to confirm the diagnosis.[1][2][3]
Last updated: 2/1/2015

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
There is currently no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option.[1][2][3]

For more information on the treatment and management of Kartagener syndrome, please click here.
Last updated: 2/2/2015
The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided.[3][2][5]
Last updated: 2/2/2015

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Kartagener syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Genetic Disorders Of Mucociliary Clearance Consortium is a network of nine North American Centers that are collaborating in diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Additionally, GDMCC studies target related clinical conditions believed to be due to impaired mucociliary clearance, including idiopathic bronchiectasis and infection with non-tuberculous mycobacterial (NTM) organisms. Ultimately, GDMCC hopes to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Kartagener syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Kartagener syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Primary Ciliary Dyskinesia. National Organization for Rare Disorders (NORD). Updated 2015; https://rarediseases.org/rare-diseases/primary-ciliary-dyskinesia/.
  2. Maimoona A Zariwala, PhD, FACMG, Michael R Knowles, MD, and Margaret W Leigh, MD. Primary Ciliary Dyskinesia. GeneReviews. February 2013; http://www.ncbi.nlm.nih.gov/books/NBK1122/.
  3. John P Bent lll, MD. Kartagener Syndrome. Medscape Reference. February 2014; http://emedicine.medscape.com/article/299299-overview.
  4. Primary ciliary dyskinesia. Genetics Home Reference. April 2014; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.
  5. Primary ciliary dyskinesia. Orphanet. May 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244.