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Atlantoaxial dislocation

MedGen UID:
82672
Concept ID:
C0263905
Finding; Injury or Poisoning
Synonyms: Atlanto-axial subluxation; Atlantoaxial subluxation
SNOMED CT: Atlantoaxial subluxation (263042007); AAS-Atlantoaxial subluxation (263042007); Subluxation of atlantoaxial joint (263042007)
 
HPO: HP:0003414

Definition

Partial dislocation of the atlantoaxial joint. [from HPO]

Conditions with this feature

Marshall-Smith syndrome
MedGen UID:
75551
Concept ID:
C0265211
Disease or Syndrome
The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.
Spondyloepiphyseal dysplasia, Reardon type
MedGen UID:
322238
Concept ID:
C1833603
Disease or Syndrome
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Mucolipidosis type II
MedGen UID:
435914
Concept ID:
C2673377
Disease or Syndrome
GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.
Anauxetic dysplasia 1
MedGen UID:
1638106
Concept ID:
C4551965
Disease or Syndrome
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.

Professional guidelines

PubMed

Goel A, Vutha R, Shah A, Prasad A, Gupta A, Kumar A
Acta Neurochir Suppl 2023;135:265-272. doi: 10.1007/978-3-031-36084-8_41. PMID: 38153480
Ruf M, Pitzen T, Meyer C, Drumm J
J Neurol Surg A Cent Eur Neurosurg 2021 Jan;82(1):1-8. Epub 2020 Sep 23 doi: 10.1055/s-0040-1712940. PMID: 32968997
Mohindra S, Tripathi M, Batish A, Mohindra S, Mahendru S
Acta Neurochir (Wien) 2020 Nov;162(11):2875-2886. Epub 2020 Aug 10 doi: 10.1007/s00701-020-04516-1. PMID: 32779024

Recent clinical studies

Etiology

Zhu H, Xu R, Wang S, Xia H, Yan Y, Xia Y
World Neurosurg 2023 Jul;175:e1017-e1024. Epub 2023 Apr 21 doi: 10.1016/j.wneu.2023.04.064. PMID: 37087038
Wu J, Li Y, Chen F, Wang H, Ni B, Yang H, Guo Q
World Neurosurg 2023 Jul;175:e959-e963. Epub 2023 Apr 20 doi: 10.1016/j.wneu.2023.04.049. PMID: 37084842
Mingsheng T, Long G, Ping Y, Feng Y, Xiangsheng T, Haoning M, Qinying H
Orthop Surg 2020 Aug;12(4):1199-1204. Epub 2020 Jul 25 doi: 10.1111/os.12734. PMID: 32710601Free PMC Article
Ren X, Gao F, Li S, Yang J, Xi Y
J Orthop Surg (Hong Kong) 2019 Sep-Dec;27(3):2309499019870465. doi: 10.1177/2309499019870465. PMID: 31451023
Meyer C, Eysel P, Stein G
Biomed Res Int 2019;2019:5297950. Epub 2019 Mar 18 doi: 10.1155/2019/5297950. PMID: 31011575Free PMC Article

Diagnosis

Wu X, Hao C, Ling M, Jin Z, Sun Z, Chang Y, Liu S, Yi Z, Zhu Z
Int Orthop 2023 Mar;47(3):781-791. Epub 2022 Nov 8 doi: 10.1007/s00264-022-05616-6. PMID: 36348088
Wang Y, Song C, Ji Y, Xia J, Chen C, Haque M, Zhuang J, Zhou C, Zu J, Li X, Yan J
World Neurosurg 2023 Mar;171:e1-e7. Epub 2022 Aug 29 doi: 10.1016/j.wneu.2022.08.108. PMID: 36049725
Olinger C, Bransford R
Orthop Clin North Am 2021 Oct;52(4):451-479. Epub 2021 Jul 29 doi: 10.1016/j.ocl.2021.05.013. PMID: 34538354
Meyer C, Eysel P, Stein G
Biomed Res Int 2019;2019:5297950. Epub 2019 Mar 18 doi: 10.1155/2019/5297950. PMID: 31011575Free PMC Article
Jain VK
Neurol India 2012 Jan-Feb;60(1):9-17. doi: 10.4103/0028-3886.93582. PMID: 22406773

Therapy

Zhong Y, Xin Y, Liu X, Xiao X, Guo F, Yao H
Int Orthop 2023 Jul;47(7):1805-1813. Epub 2023 May 11 doi: 10.1007/s00264-023-05817-7. PMID: 37166469Free PMC Article
He H, Li X, Li P, Zhang K, Zhang P, Guo Q, Dong C, Guo G, Nie F, Du J
BMC Surg 2023 Mar 30;23(1):76. doi: 10.1186/s12893-023-01957-0. PMID: 36997968Free PMC Article
Xu N, Tian Y, Yue L, Yan M, Hung KL, Hou X, Li W, Wang S
J Bone Joint Surg Am 2023 May 17;105(10):771-778. Epub 2023 Feb 24 doi: 10.2106/JBJS.22.01004. PMID: 36827380
Ben Tekaya A, Rezgui S, Tbini H, Bellil M, Bouden S, Rouached L, Tekaya R, Mahmoud I, Saidane O, Abdelmoula L
Musculoskeletal Care 2023 Jun;21(2):592-599. Epub 2022 Oct 27 doi: 10.1002/msc.1710. PMID: 36300878
Liu S, Liu B, Liang G, Chen Q, Wang H, Lin Y
J Orthop Surg Res 2022 Mar 28;17(1):183. doi: 10.1186/s13018-022-03077-6. PMID: 35346286Free PMC Article

Prognosis

Xu N, Tian Y, Yue L, Yan M, Hung KL, Hou X, Li W, Wang S
J Bone Joint Surg Am 2023 May 17;105(10):771-778. Epub 2023 Feb 24 doi: 10.2106/JBJS.22.01004. PMID: 36827380
Ben Tekaya A, Rezgui S, Tbini H, Bellil M, Bouden S, Rouached L, Tekaya R, Mahmoud I, Saidane O, Abdelmoula L
Musculoskeletal Care 2023 Jun;21(2):592-599. Epub 2022 Oct 27 doi: 10.1002/msc.1710. PMID: 36300878
Mingsheng T, Long G, Ping Y, Feng Y, Xiangsheng T, Haoning M, Qinying H
Orthop Surg 2020 Aug;12(4):1199-1204. Epub 2020 Jul 25 doi: 10.1111/os.12734. PMID: 32710601Free PMC Article
Huang PJ, Lin JH, Chiang YH
World Neurosurg 2020 Jun;138:e634-e641. Epub 2020 Mar 13 doi: 10.1016/j.wneu.2020.03.023. PMID: 32173550
Ma G, Chan TC
J Emerg Med 1999 Jan-Feb;17(1):113-4. doi: 10.1016/s0736-4679(98)00143-7. PMID: 9950398

Clinical prediction guides

Zhu H, Xu R, Wang S, Xia H, Yan Y, Xia Y
World Neurosurg 2023 Jul;175:e1017-e1024. Epub 2023 Apr 21 doi: 10.1016/j.wneu.2023.04.064. PMID: 37087038
Xu N, Tian Y, Yue L, Yan M, Hung KL, Hou X, Li W, Wang S
J Bone Joint Surg Am 2023 May 17;105(10):771-778. Epub 2023 Feb 24 doi: 10.2106/JBJS.22.01004. PMID: 36827380
Wu X, Hao C, Ling M, Jin Z, Sun Z, Chang Y, Liu S, Yi Z, Zhu Z
Int Orthop 2023 Mar;47(3):781-791. Epub 2022 Nov 8 doi: 10.1007/s00264-022-05616-6. PMID: 36348088
Wang Y, Song C, Ji Y, Xia J, Chen C, Haque M, Zhuang J, Zhou C, Zu J, Li X, Yan J
World Neurosurg 2023 Mar;171:e1-e7. Epub 2022 Aug 29 doi: 10.1016/j.wneu.2022.08.108. PMID: 36049725
Mingsheng T, Long G, Ping Y, Feng Y, Xiangsheng T, Haoning M, Qinying H
Orthop Surg 2020 Aug;12(4):1199-1204. Epub 2020 Jul 25 doi: 10.1111/os.12734. PMID: 32710601Free PMC Article

Recent systematic reviews

Essa A, Khatib S, Beit Ner E, Smorgick Y, Mirovsky Y, Anekstein Y, Rabau O
Clin Spine Surg 2023 Oct 1;36(8):323-329. Epub 2023 Feb 3 doi: 10.1097/BSD.0000000000001431. PMID: 36750437
Klepinowski T, Limanówka B, Sagan L
Neurosurg Rev 2021 Jun;44(3):1391-1400. Epub 2020 Aug 14 doi: 10.1007/s10143-020-01366-4. PMID: 32797319Free PMC Article
Guan J, Chen Z, Wu H, Yao Q, Zhang C, Qi T, Wang K, Duan W, Gao J, Li Y, Jian F
Eur Spine J 2018 Jun;27(6):1234-1248. Epub 2018 Apr 16 doi: 10.1007/s00586-018-5563-7. PMID: 29663144

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