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Cervical instability

MedGen UID:
350138
Concept ID:
C1863314
Finding
HPO: HP:0008462

Term Hierarchy

Conditions with this feature

Hajdu-Cheney syndrome
MedGen UID:
182961
Concept ID:
C0917715
Disease or Syndrome
Hajdu-Cheney syndrome (HJCYS) is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).
Odontoid hypoplasia
MedGen UID:
339524
Concept ID:
C1846439
Finding
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
Immunoskeletal dysplasia with neurodevelopmental abnormalities
MedGen UID:
1381460
Concept ID:
C4479452
Disease or Syndrome

Professional guidelines

PubMed

Jae-Min Park A, Nelson SE, Mesfin A
JBJS Rev 2022 Feb 15;10(2) doi: 10.2106/JBJS.RVW.21.00166. PMID: 35171878
White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, Savarirayan R; Skeletal Dysplasia Management Consortium
Orphanet J Rare Dis 2020 Jun 24;15(1):161. doi: 10.1186/s13023-020-01415-7. PMID: 32580780Free PMC Article
Hendriksz CJ, Al-Jawad M, Berger KI, Hawley SM, Lawrence R, Mc Ardle C, Summers CG, Wright E, Braunlin E
J Inherit Metab Dis 2013 Mar;36(2):309-22. Epub 2012 Feb 23 doi: 10.1007/s10545-012-9459-0. PMID: 22358740Free PMC Article

Recent clinical studies

Etiology

Yuan J, Xiong X, Zhang B, Feng Q, Zhang J, Wang W, Tang J
Front Endocrinol (Lausanne) 2022;13:1054206. Epub 2022 Dec 16 doi: 10.3389/fendo.2022.1054206. PMID: 36589832Free PMC Article
Bascom R, Dhingra R, Francomano CA
Am J Med Genet C Semin Med Genet 2021 Dec;187(4):533-548. Epub 2021 Nov 22 doi: 10.1002/ajmg.c.31953. PMID: 34811894
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Bridges KJ, Than KD
J Clin Neurosci 2018 Feb;48:18-27. Epub 2017 Nov 4 doi: 10.1016/j.jocn.2017.10.057. PMID: 29113855
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Diagnosis

Bascom R, Dhingra R, Francomano CA
Am J Med Genet C Semin Med Genet 2021 Dec;187(4):533-548. Epub 2021 Nov 22 doi: 10.1002/ajmg.c.31953. PMID: 34811894
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Izzo R, Popolizio T, Balzano RF, Simeone A, Gasparotti R, Scarabino T, Muto M
Eur J Radiol 2020 Jun;127:108960. Epub 2020 Mar 19 doi: 10.1016/j.ejrad.2020.108960. PMID: 32298957
Bridges KJ, Than KD
J Clin Neurosci 2018 Feb;48:18-27. Epub 2017 Nov 4 doi: 10.1016/j.jocn.2017.10.057. PMID: 29113855
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Therapy

Yuan J, Xiong X, Zhang B, Feng Q, Zhang J, Wang W, Tang J
Front Endocrinol (Lausanne) 2022;13:1054206. Epub 2022 Dec 16 doi: 10.3389/fendo.2022.1054206. PMID: 36589832Free PMC Article
Obo T, Fujishiro T, Mizutani M, Nakano A, Nakaya Y, Hayama S, Usami Y, Neo M
Spine J 2022 Nov;22(11):1837-1847. Epub 2022 Jun 17 doi: 10.1016/j.spinee.2022.06.004. PMID: 35724810
Bertolizio G, Saint-Martin C, Ingelmo P
Paediatr Anaesth 2018 Oct;28(10):830-833. Epub 2018 Sep 12 doi: 10.1111/pan.13481. PMID: 30207016
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, Jones S, Rowe R, Solanki GA, Valdemarsson B
J Inherit Metab Dis 2013 Mar;36(2):211-9. Epub 2012 Nov 30 doi: 10.1007/s10545-012-9563-1. PMID: 23197104Free PMC Article

Prognosis

Yuan J, Xiong X, Zhang B, Feng Q, Zhang J, Wang W, Tang J
Front Endocrinol (Lausanne) 2022;13:1054206. Epub 2022 Dec 16 doi: 10.3389/fendo.2022.1054206. PMID: 36589832Free PMC Article
Shin JJ, Kim KR, Son DW, Shin DA, Yi S, Kim KN, Yoon DH, Ha Y
Yonsei Med J 2022 Jan;63(1):72-81. doi: 10.3349/ymj.2022.63.1.72. PMID: 34913286Free PMC Article
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Hutting N, Scholten-Peeters GG, Vijverman V, Keesenberg MD, Verhagen AP
Phys Ther 2013 Dec;93(12):1686-95. Epub 2013 Jul 25 doi: 10.2522/ptj.20130186. PMID: 23886844
Garfin SR, Ahlgren BD
Curr Opin Rheumatol 1995 Mar;7(2):114-9. doi: 10.1097/00002281-199503000-00008. PMID: 7766491

Clinical prediction guides

Xiao Q, Chen Y, Wang J, Zang F, Wang Y, Zheng G, Yang K, Zhang R, Hu B, Chen H
Med Phys 2023 Jul;50(7):4182-4196. Epub 2023 May 10 doi: 10.1002/mp.16440. PMID: 37162252
Yuan J, Xiong X, Zhang B, Feng Q, Zhang J, Wang W, Tang J
Front Endocrinol (Lausanne) 2022;13:1054206. Epub 2022 Dec 16 doi: 10.3389/fendo.2022.1054206. PMID: 36589832Free PMC Article
Obo T, Fujishiro T, Mizutani M, Nakano A, Nakaya Y, Hayama S, Usami Y, Neo M
Spine J 2022 Nov;22(11):1837-1847. Epub 2022 Jun 17 doi: 10.1016/j.spinee.2022.06.004. PMID: 35724810
Shin JJ, Kim KR, Son DW, Shin DA, Yi S, Kim KN, Yoon DH, Ha Y
Yonsei Med J 2022 Jan;63(1):72-81. doi: 10.3349/ymj.2022.63.1.72. PMID: 34913286Free PMC Article
Hutting N, Scholten-Peeters GG, Vijverman V, Keesenberg MD, Verhagen AP
Phys Ther 2013 Dec;93(12):1686-95. Epub 2013 Jul 25 doi: 10.2522/ptj.20130186. PMID: 23886844

Recent systematic reviews

Banat M, Vychopen M, Wach J, Salemdawod A, Scorzin J, Vatter H
Eur J Trauma Emerg Surg 2022 Oct;48(5):3505-3511. Epub 2021 Dec 9 doi: 10.1007/s00068-021-01849-z. PMID: 34881392Free PMC Article
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Kranenburg HA, Schmitt MA, Puentedura EJ, Luijckx GJ, van der Schans CP
Musculoskelet Sci Pract 2017 Apr;28:32-38. Epub 2017 Jan 23 doi: 10.1016/j.msksp.2017.01.008. PMID: 28171776
Hutting N, Scholten-Peeters GG, Vijverman V, Keesenberg MD, Verhagen AP
Phys Ther 2013 Dec;93(12):1686-95. Epub 2013 Jul 25 doi: 10.2522/ptj.20130186. PMID: 23886844
Vogel TW, Menezes AH
Childs Nerv Syst 2012 Apr;28(4):609-19. Epub 2012 Jan 25 doi: 10.1007/s00381-012-1694-z. PMID: 22274407

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