U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital absence of cervical vertebra

MedGen UID:
140922
•Concept ID:
C0432160
•
Congenital Abnormality
Synonyms: Cervical vertebrae, agenesis of; Cervical vertebral agenesis
SNOMED CT: Congenital absence of cervical vertebra (91880006); Agenesis of cervical vertebra (1163556006)
 
HPO: HP:0008459
Monarch Initiative: MONDO:0008957
OMIM®: 214290

Definition

Agenesis of one or more vertebrae of the cervical vertebral column. [from HPO]

Clinical features

From HPO
Congenital absence of cervical vertebra
MedGen UID:
140922
•Concept ID:
C0432160
•
Congenital Abnormality
Agenesis of one or more vertebrae of the cervical vertebral column.
See: Feature record | Search on this feature
Abnormality of the neck
MedGen UID:
540042
•Concept ID:
C0266623
•
Congenital Abnormality
An abnormality of the neck.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital absence of cervical vertebra

Conditions with this feature

Congenital absence of cervical vertebra
MedGen UID:
140922
•Concept ID:
C0432160
•
Congenital Abnormality
Agenesis of one or more vertebrae of the cervical vertebral column.
See: Condition Record
Congenital absence of cervical vertebra

Professional guidelines

PubMed

Diagnosis and management of large occipitocervical cephaloceles: a 10-year experience.
Kotil K, Kilinc B, Bilge T
Pediatr Neurosurg 2008;44(3):193-8. Epub 2008 Mar 11 doi: 10.1159/000120149. PMID: 18334842
Absence of symmetry in superior articular facets on the first cervical vertebra in humans: implications for diagnosis and treatment.
Gottlieb MS
J Manipulative Physiol Ther 1994 Jun;17(5):314-20. PMID: 7930965

Recent clinical studies

Etiology

Pathological Features and Surgical Strategies of Cervical Deformity.
Sun X, Sun S, Kong C, Wang W, Zhang T, Ding J, Li X, Lu S
Biomed Res Int 2020;2020:4290597. Epub 2020 May 12 doi: 10.1155/2020/4290597. PMID: 32461987Free PMC Article
Miniplate-Augmented Interlaminar Fusion in C1-C2 Screwing.
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
The Triangle Model of Congenital Cervical Stenosis.
Jenkins TJ, Mai HT, Burgmeier RJ, Savage JW, Patel AA, Hsu WK
Spine (Phila Pa 1976) 2016 Mar;41(5):E242-7. doi: 10.1097/BRS.0000000000001227. PMID: 26555825
Klippel-Feil syndrome.
Smith BA, Griffin C
Ann Emerg Med 1992 Jul;21(7):876-9. doi: 10.1016/s0196-0644(05)81038-8. PMID: 1610048
Congenital absence of a cervical spine pedicle: clinical and radiologic findings.
Wiener MD, Martinez S, Forsberg DA
AJR Am J Roentgenol 1990 Nov;155(5):1037-41. doi: 10.2214/ajr.155.5.2120932. PMID: 2120932

Diagnosis

Pathological Features and Surgical Strategies of Cervical Deformity.
Sun X, Sun S, Kong C, Wang W, Zhang T, Ding J, Li X, Lu S
Biomed Res Int 2020;2020:4290597. Epub 2020 May 12 doi: 10.1155/2020/4290597. PMID: 32461987Free PMC Article
Pediatric cervical spine in emergency: radiographic features of normal anatomy, variants and pitfalls.
Adib O, Berthier E, Loisel D, Aubé C
Skeletal Radiol 2016 Dec;45(12):1607-1617. Epub 2016 Sep 20 doi: 10.1007/s00256-016-2481-9. PMID: 27650073
Cervical spine anomalies in children and adolescents.
Kim HJ
Curr Opin Pediatr 2013 Feb;25(1):72-7. doi: 10.1097/MOP.0b013e32835bd4cf. PMID: 23263023
Klippel-Feil syndrome.
Smith BA, Griffin C
Ann Emerg Med 1992 Jul;21(7):876-9. doi: 10.1016/s0196-0644(05)81038-8. PMID: 1610048
Congenital absence of a cervical spine pedicle: clinical and radiologic findings.
Wiener MD, Martinez S, Forsberg DA
AJR Am J Roentgenol 1990 Nov;155(5):1037-41. doi: 10.2214/ajr.155.5.2120932. PMID: 2120932

Therapy

Anomalous vertebral and posterior communicating arteries as a risk factor in instrumentation of the posterior cervical spine.
Nagahama K, Sudo H, Abumi K, Ito M, Takahata M, Hiratsuka S, Kuroki K, Iwasaki N
Bone Joint J 2014 Apr;96-B(4):535-40. doi: 10.1302/0301-620X.96B4.33210. PMID: 24692624
Congenital absence of the posterior arch of the atlas associated with a fracture of the anterior arch.
Corominas L, Masrouha KZ
J Bone Joint Surg Br 2010 Sep;92(9):1300-2. doi: 10.1302/0301-620X.92B9.24071. PMID: 20798452
Agenesis of the right internal carotid artery and Klippel-Feil syndrome: case report.
Braga M, Pederzoli M, Beretta S, Ferrarini M, Canovaro P, Arpaia G, Crespi V
Spine (Phila Pa 1976) 2009 Sep 15;34(20):E740-2. doi: 10.1097/BRS.0b013e3181b41181. PMID: 19752694
The lasso technique for posterior C1-C2 fusion.
Klimo P Jr, Binning M, Brockmeyer DL, Apfelbaum RI
Neurosurgery 2007 Sep;61(3 Suppl):94-9; discussion 99. doi: 10.1227/01.neu.0000289721.04836.b4. PMID: 17876238
Cervical spondylotic myelopathy and radiculopathy.
Truumees E, Herkowitz HN
Instr Course Lect 2000;49:339-60. PMID: 10829188

Prognosis

Miniplate-Augmented Interlaminar Fusion in C1-C2 Screwing.
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
Congenital Agenesis of the Posterior Elements of the Axis (C2), Occipitalization of the Atlas (C1), and Basilar Invagination in an Adult Woman: A Case Report.
Aggarwal RA, Srivastava S, Bhosale S, Roy K
JBJS Case Connect 2016 Jul-Sep;6(3):e56. doi: 10.2106/JBJS.CC.15.00261. PMID: 29252633
Posterior Arch Defect of the Atlas Associated to Absence of Costal Element of Foramen Transversarium from 16th-Century Sardinia (Italy).
Giuffra V, Montella A, Tognotti E, Milanese M, Bandiera P
Spine (Phila Pa 1976) 2016 Jan;41(2):182-4. doi: 10.1097/BRS.0000000000001147. PMID: 26352746
Degenerative spondylolisthesis of the cervical spine: analysis of 58 patients treated with anterior cervical decompression and fusion.
Dean CL, Gabriel JP, Cassinelli EH, Bolesta MJ, Bohlman HH
Spine J 2009 Jun;9(6):439-46. Epub 2008 Dec 25 doi: 10.1016/j.spinee.2008.11.010. PMID: 19111509
Cervical spondylotic myelopathy and radiculopathy.
Truumees E, Herkowitz HN
Instr Course Lect 2000;49:339-60. PMID: 10829188

Clinical prediction guides

Enhanced magnetic resonance imaging manifestations of paediatric intervertebral disc calcification combined with ossification of the posterior longitudinal ligament: case report and literature review.
Chang C, Zhu J, Li H, Yang Q
BMC Pediatr 2022 Jul 8;22(1):400. doi: 10.1186/s12887-022-03461-5. PMID: 35804316Free PMC Article
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC
Childs Nerv Syst 2022 Feb;38(2):361-377. Epub 2021 Nov 22 doi: 10.1007/s00381-021-05409-z. PMID: 34806157
Atlas occipitalisation associated with other anomalies in a 16th century skeleton from Sardinia (Italy).
Giuffra V, Montella A, Milanese M, Tognotti E, Caramella D, Bandiera P
Folia Morphol (Warsz) 2017;76(1):123-127. Epub 2016 Nov 10 doi: 10.5603/FM.a2016.0039. PMID: 27830869
Degenerative spondylolisthesis of the cervical spine: analysis of 58 patients treated with anterior cervical decompression and fusion.
Dean CL, Gabriel JP, Cassinelli EH, Bolesta MJ, Bohlman HH
Spine J 2009 Jun;9(6):439-46. Epub 2008 Dec 25 doi: 10.1016/j.spinee.2008.11.010. PMID: 19111509
Congenital absence of the C1 vertebral arch.
Mace SE, Holliday R
Am J Emerg Med 1986 Jul;4(4):326-9. doi: 10.1016/0735-6757(86)90302-5. PMID: 3718623

Recent systematic reviews

Cervical pedicular agenesis: Case report and a review of the literature.
Ferracci FX, Dudoit T, Gilard V, Perez A, Lucas F
Neurochirurgie 2017 Sep;63(4):323-326. Epub 2017 Sep 4 doi: 10.1016/j.neuchi.2017.04.003. PMID: 28882605

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...