Absence of Tibia
Other Names for this Disease
- Bilateral absence of the tibia
- Tibial hemimelia
- Tibia, absence of
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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. 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. 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).Absence of tibia is a rare
Last updated: 2/25/2016
- Tibial Hemimelia. The Paley Institute. http://www.paleyinstitute.org/orthopedic-conditions/tibial-hemimelia/th-overview. Accessed 2/25/2016.
- Leite JA, Lima LC, Sampaio ML. Tibial hemimelia in one of the identical twins. J Pediatr Orthop. October-November 2010; 30(7):742-745.
- TIBIAL HEMIMELIA. OMIM. September 2014; http://www.omim.org/entry/275220.
- The Paley Institute offers an information page on Absence of Tibia. Please click on the link to access this resource.
- 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 Absence of Tibia. Click on the link to view a sample search on this topic.