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

Ivemark syndrome


Other Names:
Asplenia with cardiovascular anomalies; Asplenia syndrome; Bilateral right-sidedness sequence; Asplenia with cardiovascular anomalies; Asplenia syndrome; Bilateral right-sidedness sequence; Splenic agenesis syndrome See More
Categories:
This disease is grouped under:

Ivemark syndrome is a rare congenital condition that affects multiple organ systems of the body. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, heart malformations, and the abnormal arrangement of the internal organs of the chest and abdomen. Symptoms vary greatly depending on the specific abnormalities present; however if heart malformations are complex, the prognosis is often poor. The exact cause of Ivemark syndrome is not known. Most cases are sporadic (isolated and seemingly random). Unlike some other heterotaxy disorders, causative gene mutations have not been identified. There is no cure for Ivemark syndrome. Treatment might include surgical repair of heart malformations when appropriate and prophylactic antibiotic therapy to reduce the incidence of infection due to the absence or poor function of the spleen.[1][2][3]

Last updated: 2/23/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Aortopulmonary collateral arteries 0031834
Asplenia
Absent spleen
0001746
Common atrium 0011565
Inguinal hernia 0000023
Situs inversus totalis
All organs on wrong side of body
0001696
Tetralogy of Fallot 0001636
Total anomalous pulmonary venous return 0005160
Transposition of the great arteries 0001669
Percent of people who have these symptoms is not available through HPO
Abdominal situs ambiguus 0031565
Abnormal lung lobation 0002101
Agenesis of corpus callosum 0001274
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autosomal recessive inheritance 0000007
Complete atrioventricular canal defect 0001674
Polysplenia
Multiple small spleens
0001748
Pulmonary artery atresia 0004935
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Right atrial isomerism 0011536
Single ventricle 0001750
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Ivemark 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.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Ivemark syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Ivemark syndrome:
    European Society for Immunodeficiencies (ESID) Registry
     

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

Social Networking Websites

  • Contact A Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family to view the Making Contact page for Ivemark syndrome.

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

  • 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

  • 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Ivemark 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. Ivemark Syndrome. National Organization for Rare Disorders (NORD). 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/740/viewAbstract.
  2. Kenneth Lyon Jones. Smith's Recognizable Patterns of Human Malformation. Elsevier Saunders; 2006; 6:698-700.
  3. Adrian Hrusca, Andreea Liana Rachisan, Bogdan Lucian, Simona Oprita, Simona Manole, Simona Cainap. Ivemark syndrome-a rare entity with specific anatomical features. Rev Med Chile. March 2015; 143(3):383-386. http://www.ncbi.nlm.nih.gov/pubmed/?term=26005826.