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Tibial torsion

MedGen UID:
98099
Concept ID:
C0426900
Finding
SNOMED CT: Tibial torsion (249785006)
 
HPO: HP:0100694

Definition

Twisted position of the tibia (shin bone) associated with pathological rotation of the leg. [from HPO]

Conditions with this feature

Radial aplasia-thrombocytopenia syndrome
MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.
Epiphyseal dysplasia, multiple, 2
MedGen UID:
333092
Concept ID:
C1838429
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Tibial torsion, bilateral medial
MedGen UID:
348785
Concept ID:
C1861097
Disease or Syndrome
Tibial torsion (twisting of the tibia) can cause toeing in or out, depending on whether it is internal or external torsion. Although some degree of internal tibial torsion is present in almost all infants because of the intrauterine position, it usually corrects spontaneously. Persistence of internal tibial torsion may be inherited as an autosomal dominant trait (summary by Fitch, 1974).
H syndrome
MedGen UID:
400532
Concept ID:
C1864445
Disease or Syndrome
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).
Chromosome 17q23.1-q23.2 deletion syndrome
MedGen UID:
461957
Concept ID:
C3150607
Disease or Syndrome
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Intellectual developmental disorder with impaired language and dysmorphic facies
MedGen UID:
1684804
Concept ID:
C5231444
Disease or Syndrome
Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by Balak et al., 2019).
Neuroocular syndrome
MedGen UID:
1790414
Concept ID:
C5551362
Disease or Syndrome

Professional guidelines

PubMed

Weber AE, Nathani A, Dines JS, Allen AA, Shubin-Stein BE, Arendt EA, Bedi A
J Bone Joint Surg Am 2016 Mar 2;98(5):417-27. doi: 10.2106/JBJS.O.00354. PMID: 26935465
Harris E
Clin Podiatr Med Surg 2013 Oct;30(4):531-65. Epub 2013 Jul 31 doi: 10.1016/j.cpm.2013.07.002. PMID: 24075135
Wall EJ
Nurs Clin North Am 2000 Mar;35(1):95-113. PMID: 10673567

Recent clinical studies

Etiology

Qiao Y, Ye Z, Zhang X, Xu X, Xu C, Li Y, Zhao S, Zhao J
Am J Sports Med 2023 Jul;51(9):2374-2382. Epub 2023 Jun 12 doi: 10.1177/03635465231177059. PMID: 37306061
Bayram E, Şener N, Korkmaz M, Yıldırım C, Aydın M, Yurdaışık I, Çetinus ME
Knee Surg Sports Traumatol Arthrosc 2023 Jun;31(6):2251-2256. Epub 2022 Sep 25 doi: 10.1007/s00167-022-07173-2. PMID: 36153779
Cidambi EO, Farnsworth CL, Jeffords ME, Hughes JL, Parvaresh KC, Sullivan TB, Yaszay B, Edmonds EW
Clin Biomech (Bristol, Avon) 2022 Jan;91:105536. Epub 2021 Nov 20 doi: 10.1016/j.clinbiomech.2021.105536. PMID: 34920237
Sullivan M, Bonilla K, Donegan D
Orthop Clin North Am 2021 Jul;52(3):215-229. Epub 2021 May 7 doi: 10.1016/j.ocl.2021.03.008. PMID: 34053567
Harris E
Clin Podiatr Med Surg 2013 Oct;30(4):531-65. Epub 2013 Jul 31 doi: 10.1016/j.cpm.2013.07.002. PMID: 24075135

Diagnosis

Min JJ, Youn K, Oh S, Sung KH, Lee KM, Park MS
J Bone Joint Surg Am 2022 Dec 7;104(23):2095-2100. Epub 2022 Sep 20 doi: 10.2106/JBJS.22.00414. PMID: 36126146
Rerucha CM, Dickison C, Baird DC
Am Fam Physician 2017 Aug 15;96(4):226-233. PMID: 28925669
Harris E
Clin Podiatr Med Surg 2013 Oct;30(4):531-65. Epub 2013 Jul 31 doi: 10.1016/j.cpm.2013.07.002. PMID: 24075135
Sass P, Hassan G
Am Fam Physician 2003 Aug 1;68(3):461-8. PMID: 12924829
Dietz FR
Am Fam Physician 1994 Nov 1;50(6):1249-59, 1262-4. PMID: 7942424

Therapy

Swarup I, Talwar D, Howell LJ, Adzick NS, Horn BD
J Pediatr Orthop B 2022 Jan 1;31(1):87-92. doi: 10.1097/BPB.0000000000000827. PMID: 33165214Free PMC Article
Cintra SP, Fonseca ST, Carvalho DS, Araújo VL, Araújo PA, Okai-Nóbrega LA, Freire MTF, Ocarino JM, Resende RA, Souza TR
J Manipulative Physiol Ther 2021 Nov-Dec;44(9):718-724. doi: 10.1016/j.jmpt.2022.03.006. PMID: 35781161
Sullivan M, Bonilla K, Donegan D
Orthop Clin North Am 2021 Jul;52(3):215-229. Epub 2021 May 7 doi: 10.1016/j.ocl.2021.03.008. PMID: 34053567
Eckardt H, Morgenstern M, Cadosch D, Stoffel K
J Orthop Trauma 2021 Dec 1;35(12):e507-e510. doi: 10.1097/BOT.0000000000002089. PMID: 34050074
Li Y, Gao YH, Lu-Ding, Liu J, Yang C, Li M, Qi X
BMC Musculoskelet Disord 2019 Aug 7;20(1):361. doi: 10.1186/s12891-019-2744-4. PMID: 31391055Free PMC Article

Prognosis

Wollmann JS, Marshall AS, Schrank M, Gruss LT
Am J Biol Anthropol 2023 Jan;180(1):115-126. Epub 2022 Oct 30 doi: 10.1002/ajpa.24641. PMID: 36790669
Volkmar AJ, Stinner DJ, Pennings J, Mitchell PM
J Am Acad Orthop Surg 2022 Jan 15;30(2):e199-e203. doi: 10.5435/JAAOS-D-21-00406. PMID: 34534182
Jud L, Singh S, Tondelli T, Fürnstahl P, Fucentese SF, Vlachopoulos L
Am J Sports Med 2020 Jul;48(9):2260-2267. Epub 2020 Jun 18 doi: 10.1177/0363546520929687. PMID: 32551826
Weinberg DS, Park PJ, Morris WZ, Liu RW
J Pediatr Orthop 2017 Mar;37(2):e120-e128. doi: 10.1097/BPO.0000000000000604. PMID: 26214325
Harris E
Clin Podiatr Med Surg 2013 Oct;30(4):531-65. Epub 2013 Jul 31 doi: 10.1016/j.cpm.2013.07.002. PMID: 24075135

Clinical prediction guides

Qiao Y, Ye Z, Zhang X, Xu X, Xu C, Li Y, Zhao S, Zhao J
Am J Sports Med 2023 Jul;51(9):2374-2382. Epub 2023 Jun 12 doi: 10.1177/03635465231177059. PMID: 37306061
Wollmann JS, Marshall AS, Schrank M, Gruss LT
Am J Biol Anthropol 2023 Jan;180(1):115-126. Epub 2022 Oct 30 doi: 10.1002/ajpa.24641. PMID: 36790669
Hawi H, Kaireit TF, Krettek C, Liodakis E
Eur J Trauma Emerg Surg 2022 Aug;48(4):3229-3235. Epub 2022 Feb 10 doi: 10.1007/s00068-022-01884-4. PMID: 35146543Free PMC Article
Ciufo DJ, Baker EA, Gehrke CK, Vaupel ZM, Fortin PT
Foot Ankle Surg 2022 Apr;28(3):354-361. Epub 2021 Apr 18 doi: 10.1016/j.fas.2021.04.007. PMID: 33888396
Jud L, Singh S, Tondelli T, Fürnstahl P, Fucentese SF, Vlachopoulos L
Am J Sports Med 2020 Jul;48(9):2260-2267. Epub 2020 Jun 18 doi: 10.1177/0363546520929687. PMID: 32551826

Recent systematic reviews

Byrnes SK, Holder J, Stief F, Wearing S, Böhm H, Dussa CU, Horstmann T
Gait Posture 2022 Oct;98:39-48. Epub 2022 Aug 1 doi: 10.1016/j.gaitpost.2022.07.258. PMID: 36049417
Arshad Z, Maughan HD, Sunil Kumar KH, Pettit M, Arora A, Khanduja V
Knee Surg Sports Traumatol Arthrosc 2021 Sep;29(9):2825-2836. Epub 2021 Jul 6 doi: 10.1007/s00167-021-06643-3. PMID: 34228156Free PMC Article

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