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Cervical spine instability

MedGen UID:
96083
Concept ID:
C0410652
Disease or Syndrome
SNOMED CT: Cervical spine instability (202821008)
 
HPO: HP:0010646

Definition

An abnormal lack of stability of the cervical spine. [from HPO]

Term Hierarchy

Conditions with this feature

Camptomelic dysplasia
MedGen UID:
354620
Concept ID:
C1861922
Disease or Syndrome
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Ehlers-Danlos syndrome, spondylodysplastic type, 2
MedGen UID:
815540
Concept ID:
C3809210
Disease or Syndrome
The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070.
Rienhoff syndrome
MedGen UID:
816342
Concept ID:
C3810012
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Meester-Loeys syndrome
MedGen UID:
934778
Concept ID:
C4310811
Disease or Syndrome
Meester-Loeys syndrome (MRLS) is an X-linked disorder characterized by early-onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia (Meester et al., 2017).
Anauxetic dysplasia 2
MedGen UID:
1384439
Concept ID:
C4479357
Disease or Syndrome
Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).
Loeys-Dietz syndrome 1
MedGen UID:
1646567
Concept ID:
C4551955
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.

Professional guidelines

PubMed

Lewanda AF, Matisoff A, Revenis M, Harahsheh A, Futterman C, Nino G, Greenberg J, Myseros JS, Rosenbaum KN, Summar M
Paediatr Anaesth 2016 Apr;26(4):356-62. Epub 2016 Jan 9 doi: 10.1111/pan.12841. PMID: 26749540
Martini RP, Larson DM
Anesthesiol Clin 2015 Jun;33(2):315-27. Epub 2015 Apr 14 doi: 10.1016/j.anclin.2015.02.004. PMID: 25999005
Garfin SR, Ahlgren BD
Curr Opin Rheumatol 1995 Mar;7(2):114-9. doi: 10.1097/00002281-199503000-00008. PMID: 7766491

Recent clinical studies

Etiology

Zoli A, Leone F, Zoli A, Visocchi M
Acta Neurochir Suppl 2023;135:197-202. doi: 10.1007/978-3-031-36084-8_30. PMID: 38153469
Baek IW, Joo YB, Park KS, Kim KJ
Clin Rheumatol 2021 Feb;40(2):547-555. Epub 2020 Jun 29 doi: 10.1007/s10067-020-05243-9. PMID: 32613395
Kang JYJ
Anesthesiol Clin 2020 Sep;38(3):621-642. doi: 10.1016/j.anclin.2020.06.002. PMID: 32792188
Mik G, Gholve PA, Scher DM, Widmann RF, Green DW
Curr Opin Pediatr 2008 Feb;20(1):30-6. doi: 10.1097/MOP.0b013e3282f35f19. PMID: 18197036
Garfin SR, Ahlgren BD
Curr Opin Rheumatol 1995 Mar;7(2):114-9. doi: 10.1097/00002281-199503000-00008. PMID: 7766491

Diagnosis

Rueangsri C, Puntumetakul R, Leungbootnak A, Sae-Jung S, Chatprem T
Int J Environ Res Public Health 2023 Aug 25;20(17) doi: 10.3390/ijerph20176645. PMID: 37681785Free PMC Article
da Côrte FC, Neves N
Eur J Orthop Surg Traumatol 2014 Jul;24 Suppl 1:S83-91. Epub 2013 Jun 27 doi: 10.1007/s00590-013-1258-2. PMID: 23807394
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
Mik G, Gholve PA, Scher DM, Widmann RF, Green DW
Curr Opin Pediatr 2008 Feb;20(1):30-6. doi: 10.1097/MOP.0b013e3282f35f19. PMID: 18197036
Wills BP, Dormans JP
J Am Acad Orthop Surg 2006 Apr;14(4):233-45. doi: 10.5435/00124635-200604000-00005. PMID: 16585365

Therapy

Zalzal HG, Lawlor CM
JAMA Otolaryngol Head Neck Surg 2023 Apr 1;149(4):360-367. doi: 10.1001/jamaoto.2023.0001. PMID: 36862403
Wiles MD
Anaesthesia 2022 Oct;77(10):1120-1128. doi: 10.1111/anae.15807. PMID: 36089854Free PMC Article
Baek IW, Joo YB, Park KS, Kim KJ
Clin Rheumatol 2021 Feb;40(2):547-555. Epub 2020 Jun 29 doi: 10.1007/s10067-020-05243-9. PMID: 32613395
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
Dauphinee K
Emerg Med Clin North Am 1988 Nov;6(4):699-713. PMID: 3056706

Prognosis

Baek IW, Joo YB, Park KS, Kim KJ
Clin Rheumatol 2021 Feb;40(2):547-555. Epub 2020 Jun 29 doi: 10.1007/s10067-020-05243-9. PMID: 32613395
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
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
Hadley MN, Walters BC, Grabb PA, Oyesiku NM, Przybylski GJ, Resnick DK, Ryken TC
Neurosurgery 2002 Mar;50(3 Suppl):S85-99. doi: 10.1097/00006123-200203001-00016. PMID: 12431292
Garfin SR, Ahlgren BD
Curr Opin Rheumatol 1995 Mar;7(2):114-9. doi: 10.1097/00002281-199503000-00008. PMID: 7766491

Clinical prediction guides

Zalzal HG, Lawlor CM
JAMA Otolaryngol Head Neck Surg 2023 Apr 1;149(4):360-367. doi: 10.1001/jamaoto.2023.0001. PMID: 36862403
Baek IW, Joo YB, Park KS, Kim KJ
Clin Rheumatol 2021 Feb;40(2):547-555. Epub 2020 Jun 29 doi: 10.1007/s10067-020-05243-9. PMID: 32613395
Maher T, Yassine ZA, Majdi BH, Nader N
Pan Afr Med J 2020;36:217. Epub 2020 Jul 27 doi: 10.11604/pamj.2020.36.217.24850. PMID: 32963683Free 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
Garfin SR, Ahlgren BD
Curr Opin Rheumatol 1995 Mar;7(2):114-9. doi: 10.1097/00002281-199503000-00008. PMID: 7766491

Recent systematic reviews

Soliman MAR, Khan S, Ruggiero N, Mariotti BL, Aguirre AO, Kuo CC, Fritz AG, Sharma S, Nezha A, Levy BR, Khan A, Salem AA, Jowdy PK, Zeeshan Q, Ghannam MM, Starling RV, Pollina J, Mullin JP
Neurosurg Rev 2022 Jun;45(3):1941-1950. Epub 2022 Feb 9 doi: 10.1007/s10143-022-01750-2. PMID: 35138485
Badhiwala JH, Lai CK, Alhazzani W, Farrokhyar F, Nassiri F, Meade M, Mansouri A, Sne N, Aref M, Murty N, Witiw C, Singh S, Yarascavitch B, Reddy K, Almenawer SA
Ann Intern Med 2015 Mar 17;162(6):429-37. doi: 10.7326/M14-2351. PMID: 25775316
Leadley RM, Lang S, Misso K, Bekkering T, Ross J, Akiyama T, Fietz M, Giugliani R, Hendriksz CJ, Hock NL, McGill J, Olaye A, Jain M, Kleijnen J
Orphanet J Rare Dis 2014 Nov 18;9:173. doi: 10.1186/s13023-014-0173-x. PMID: 25404155Free 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
Sierink JC, van Lieshout WA, Beenen LF, Schep NW, Vandertop WP, Goslings JC
Eur J Radiol 2013 Jun;82(6):974-81. Epub 2013 Mar 13 doi: 10.1016/j.ejrad.2013.02.009. PMID: 23489979

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