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Diseases

Genetic and Rare Diseases Information Center (GARD)

Absence of Tibia


Other Names for this Disease
  • Bilateral absence of the tibia
  • Tibial hemimelia
  • Tibia, absence of
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Overview

Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations.[1][2] It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member.[3][1] Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).[1]
Last updated: 2/25/2016

References

  1. Tibial Hemimelia. The Paley Institute. http://www.paleyinstitute.org/orthopedic-conditions/tibial-hemimelia/th-overview. Accessed 2/25/2016.
  2. Leite JA, Lima LC, Sampaio ML. Tibial hemimelia in one of the identical twins. J Pediatr Orthop. October-November 2010; 30(7):742-745.
  3. TIBIAL HEMIMELIA. OMIM. September 2014; http://www.omim.org/entry/275220.
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Basic Information

  • The Paley Institute offers an information page on Absence of Tibia. Please click on the link to access this resource.

In Depth Information

  • 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 Absence of Tibia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Bilateral absence of the tibia
  • Tibial hemimelia
  • Tibia, absence of
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.