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

Heart defect-tongue hamartoma-polysyndactyly syndrome


Other Names:
Ostravik-Lindemann-Solberg syndrome; Congenital heart defects, hamartomas of tongue, and polysyndactyly; Orstavik Lindemann Solberg syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1338

Definition
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.

Visit the Orphanet disease page for more resources.
Last updated: 12/1/2018

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
80%-99% of people have these symptoms
Hamartoma of tongue 0011802
Patent ductus arteriosus 0001643
Subvalvular aortic stenosis
Narrowing of blood vessel below aortic heart valve
0001682
30%-79% of people have these symptoms
2-3 finger syndactyly
Webbed 2nd-3rd fingers
0001233
Benign neoplasm of the central nervous system 0100835
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
5%-29% of people have these symptoms
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Broad hallux
Broad big toe
Wide big toe
[ more ] 		0010055
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta
[ more ] 		0001680
Complete atrioventricular canal defect 0001674
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
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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

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.

In-Depth Information

  • 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 Heart defect-tongue hamartoma-polysyndactyly syndrome. Click on the link to view a sample search on this topic.

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