Absence of Tibia

A rare autosomal recessive anomaly characterized by deficiency of the tibia with relatively intact FIBULA. It may present as an isolated anomaly or be associated with a variety of skeletal and extraskeletal malformations. Tibial hemimelia may also constitute a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex (OMIM: 228250) and triphalangeal thumb-polysyndactyly syndrome (OMIM: 174500). OMIM: 275220

Also Known As:

Networked: 21 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Polydactyly (Polydactylism)
2.	Ectrodactyly
3.	Tetralogy of Fallot (Fallot Tetralogy)
4.	Synostosis
5.	Leg Length Inequality

Experts

1.	Colle, Pierre-Emmanuel: 2 articles (02/2010 - 06/2008)
2.	Saragaglia, Dominique: 2 articles (02/2010 - 06/2008)
3.	Albright, Patrick: 1 article (04/2019)
4.	Bovid, Karen: 1 article (04/2019)
5.	Habeck, Jason: 1 article (04/2019)
6.	Veenstra, Joshua: 1 article (04/2019)
7.	Yadav, Surender Singh: 1 article (03/2019)
8.	Deng, Kai: 1 article (01/2019)
9.	Wang, Guorong: 1 article (01/2019)
10.	Yu, Guorong: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Absence of Tibia:

1.	TeratogensIBA 01/01/1989 - "In a number of experiments it was proved, however, that these hybrids (LEW/BN, +/lx) had an increased sensitivity to the induction of limb malformations (polydactyly, tibial hemimelia, oligodactyly) by various teratogens. " 02/01/1975 - "The incidence and degree of expression of the effects (polydactyly, ectrodactyly, radial hemimelia, tibial hemimelia, pelvic girdle shifts, deformed caudal vertebrae) varied according to the teratogen and dose level. "
2.	DinoprostIBA 03/24/1979 - "Investigations in the test herd demonstrate that it is possible to detect the tibial hemimelia syndrome characteristics in 90-day-old fetuses and that those fetuses can be regularly and readily obtained undamaged by pregnancy termination using prostaglandin F2 alpha. "
3.	Methotrexate (Mexate)FDA LinkGeneric 01/27/2023 - "Distal Tibial Hemimelia in Fetal Methotrexate Syndrome: A Case Study and Literature Review."
4.	DNA Transposable Elements (Element, IS)IBA 11/01/1997 - "Using a gain-of-function approach, we find that Hoxd-12 misexpression in transgenic mice produces apparent transformations of anterior digits to posterior morphology and digit duplications, while associated tibial hemimelia and other changes indicate that formation/growth of certain skeletal elements is selectively inhibited. "
5.	Amantadine (Aman)FDA LinkGeneric 01/01/1994 - "Tibial hemimelia and tetralogy of Fallot associated with first trimester exposure to amantadine."
6.	OsseusIBA 10/01/2010 - "A roentgenogram showed right tibial hemimelia with intact fibula corresponding to Jones type 3 and the first metacarpo was duplicated with a proximal osseus synostosis. "

Therapies and Procedures

1.	Osteotomy 01/01/2023 - "A staged supratalar double osteotomy followed later by a hindfoot osteotomy is effective in centralising the ankle and creates a plantigrade weight-bearing platform for ambulation in patients with Type IV tibial hemimelia. " 02/01/2010 - "Corrective valgus osteotomy may however lead to an oblique joint line in cases of associated femur varum or absence of tibia vara. " 06/01/2008 - "Corrective valgus osteotomy may however lead to an oblique joint line in case of associated femur varum or absence of tibia vara. "
2.	Surgical Amputation (Amputations) 01/01/2023 - "The study included four patients with bilateral tibial hemimelia have an amputation in one limb and reconstructive surgery on the other. " 01/01/2023 - "Amputation vs Reconstruction in Type IV Tibial Hemimelia: Functional Outcomes and Description of a Novel Surgical Technique. " 01/01/2023 - "The management of tibial hemimelia can be complex and involve either amputation or reconstruction. " 01/01/2023 - "Amputation vs Reconstruction in Type IV Tibial Hemimelia: Functional Outcomes and Description of a Novel Surgical Technique." 04/01/2019 - "Through-knee amputation and prosthetic fitting provides limb function for GWC patients with tibial hemimelia lacking an extensor mechanism."
3.	Limb Salvage 09/01/2012 - "To study the results of treatment of tibial hemimelia with limb salvage procedure in term of patient satisfaction, clinical results and complications. " 03/27/2019 - "Type-I Tibial Hemimelia: A Limb-Salvage and Lengthening Technique." 09/01/2013 - "The five limb salvage treatments included resection of the anteromedial bifurcated femur in three limbs, foot centralization in five limbs, tibiofibular fusion in one limb with partial tibial hemimelia, fibular transfer (Brown's procedure) in three limbs with complete tibial hemimelia, and callus distraction lengthening in one limb. " 09/01/2012 - "Limb salvage procedure in tibial hemimelia is appropriate in Thai culture because patients can weight with bare feet in the house and have sensation in the feet." 09/01/2012 - "From 1993 to 2007 the authors treated six cases of tibial hemimelia with limb salvage procedures. "
4.	Prosthesis Fitting 05/01/2023 - "Treatment choice depends on the deformity type, with through-knee amputation recommended for cases with observed flexion contracture, bifid femur, and tibial hemimelia, followed by modern prosthesis fitting for optimal outcomes. "
5.	External Fixators 06/01/1999 - "Unilateral tibial hemimelia with leg length inequality and varus foot: external fixator treatment."