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Cervical spinal canal stenosis

MedGen UID:
335056
Concept ID:
C1844925
Finding
Synonym: Narrow cervical spinal canal
 
HPO: HP:0008445

Definition

An abnormal narrowing of the cervical spinal canal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCervical spinal canal stenosis

Conditions with this feature

Borjeson-Forssman-Lehmann syndrome
MedGen UID:
78557
Concept ID:
C0265339
Disease or Syndrome
Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by Crawford et al., 2006).
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
MedGen UID:
401232
Concept ID:
C1867440
Disease or Syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported (Carapito et al., 2016; Zieba et al., 2017; Cameron-Christie et al., 2018). An autosomal recessive form of CPSFS (CPSFS1B; 618469) is caused by compound heterozygous mutation in the MYH3 gene.
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
MedGen UID:
863379
Concept ID:
C4014942
Disease or Syndrome
CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by Vona et al., 2018). One family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see 256000). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected (Takezawa et al., 2018).
Joint contractures, osteochondromas, and B-cell lymphoma
MedGen UID:
1824078
Concept ID:
C5774305
Disease or Syndrome
Joint contractures, osteochondromas, and B-cell lymphoma (JCOSL) is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies. Despite the abnormalities in immunologic cells, immunodeficiency is not a feature of the disease, suggesting that it can be classified as a 'primary immune regulatory disorder' (Sharma et al., 2022).
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
MedGen UID:
1840880
Concept ID:
C5830244
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), is characterized by these features and global developmental delay with delayed or absent walking, moderate to severely impaired intellectual development, and poor or absent speech acquisition. Affected individuals may also have behavioral abnormalities. About half of patients develop various types of seizures that are usually well-controlled with medication. Rare patients are noted to have heat intolerance or insensitivity to pain (Lines et al., 2022).

Professional guidelines

PubMed

Celenlioglu AE, Solmaz I, Eksert S, Simsek F, Ilkbahar S, Sir E
Turk Neurosurg 2023;33(2):326-333. doi: 10.5137/1019-5149.JTN.42539-22.2. PMID: 36799281
Manchikanti L, Knezevic NN, Navani A, Christo PJ, Limerick G, Calodney AK, Grider J, Harned ME, Cintron L, Gharibo CG, Shah S, Nampiaparampil DE, Candido KD, Soin A, Kaye AD, Kosanovic R, Magee TR, Beall DP, Atluri S, Gupta M, Helm Ii S, Wargo BW, Diwan S, Aydin SM, Boswell MV, Haney BW, Albers SL, Latchaw R, Abd-Elsayed A, Conn A, Hansen H, Simopoulos TT, Swicegood JR, Bryce DA, Singh V, Abdi S, Bakshi S, Buenaventura RM, Cabaret JA, Jameson J, Jha S, Kaye AM, Pasupuleti R, Rajput K, Sanapati MR, Sehgal N, Trescot AM, Racz GB, Gupta S, Sharma ML, Grami V, Parr AT, Knezevic E, Datta S, Patel KG, Tracy DH, Cordner HJ, Snook LT, Benyamin RM, Hirsch JA
Pain Physician 2021 Jan;24(S1):S27-S208. PMID: 33492918
Terai H, Nakamura H
Int J Mol Sci 2020 Feb 10;21(3) doi: 10.3390/ijms21031171. PMID: 32050679Free PMC Article

Recent clinical studies

Etiology

Ohtake Y, Yasaka K, Hamada A, Fujita N, Abe O
J Comput Assist Tomogr 2023 Nov-Dec 01;47(6):996-1001. Epub 2023 Jun 9 doi: 10.1097/RCT.0000000000001490. PMID: 37948377
Hu P, He Z, Cui J, Wan Y
Clin Neurol Neurosurg 2019 Jun;181:133-137. Epub 2019 Apr 15 doi: 10.1016/j.clineuro.2019.04.016. PMID: 31039495
Luo CA, Kaliya-Perumal AK, Lu ML, Chen LH, Chen WJ, Niu CC
Eur Spine J 2019 Jan;28(1):61-68. Epub 2018 Oct 17 doi: 10.1007/s00586-018-5795-6. PMID: 30328532
Ronzi Y, Perrouin-Verbe B, Hamel O, Gross R
Ann Phys Rehabil Med 2018 Jan;61(1):27-32. Epub 2017 Oct 6 doi: 10.1016/j.rehab.2017.09.003. PMID: 28993290
Reichert R, Campos LG, Vairo F, de Souza CF, Pérez JA, Duarte JÁ, Leiria FA, Anés M, Vedolin LM
Radiographics 2016 Sep-Oct;36(5):1448-62. doi: 10.1148/rg.2016150168. PMID: 27618324

Diagnosis

Yalçın Demirci AY, Yiğitkanlı K
Acta Orthop Traumatol Turc 2023 Mar;57(2):85-88. doi: 10.5152/j.aott.2023.21083. PMID: 37140247
Ulubaba HE, Saglik S, Yildirim IO, Durak MA
Turk Neurosurg 2021;31(1):67-72. doi: 10.5137/1019-5149.JTN.29149-20.2. PMID: 33491169
Ronzi Y, Perrouin-Verbe B, Hamel O, Gross R
Ann Phys Rehabil Med 2018 Jan;61(1):27-32. Epub 2017 Oct 6 doi: 10.1016/j.rehab.2017.09.003. PMID: 28993290
Shigematsu H, Cheung JP, Mak KC, Bruzzone M, Luk KD
J Orthop Sci 2017 Jan;22(1):22-26. Epub 2016 Oct 3 doi: 10.1016/j.jos.2016.09.008. PMID: 27713009
Reichert R, Campos LG, Vairo F, de Souza CF, Pérez JA, Duarte JÁ, Leiria FA, Anés M, Vedolin LM
Radiographics 2016 Sep-Oct;36(5):1448-62. doi: 10.1148/rg.2016150168. PMID: 27618324

Therapy

Wolf K, Krafft AJ, Egger K, Klingler JH, Hubbe U, Reisert M, Hohenhaus M
J Orthop Surg Res 2019 Oct 12;14(1):321. doi: 10.1186/s13018-019-1381-9. PMID: 31606049Free PMC Article
Luo CA, Kaliya-Perumal AK, Lu ML, Chen LH, Chen WJ, Niu CC
Eur Spine J 2019 Jan;28(1):61-68. Epub 2018 Oct 17 doi: 10.1007/s00586-018-5795-6. PMID: 30328532
Lenehan B, Fisher CG, Vaccaro A, Fehlings M, Aarabi B, Dvorak MF
Spine (Phila Pa 1976) 2010 Oct 1;35(21 Suppl):S180-6. doi: 10.1097/BRS.0b013e3181f32a44. PMID: 20881460
Sugawara T, Hirano Y, Higashiyama N, Mizoi K
Spine (Phila Pa 1976) 2009 Mar 15;34(6):551-5. doi: 10.1097/BRS.0b013e31819a84ec. PMID: 19282734
Heffez DS, Ross RE, Shade-Zeldow Y, Kostas K, Shah S, Gottschalk R, Elias DA, Shepard A, Leurgans SE, Moore CG
Eur Spine J 2004 Oct;13(6):516-23. Epub 2004 Apr 9 doi: 10.1007/s00586-004-0672-x. PMID: 15083352Free PMC Article

Prognosis

Lenga P, Papakonstantinou V, Kiening K, Unterberg AW, Ishak B
Acta Neurochir (Wien) 2023 Oct;165(10):3089-3096. Epub 2023 Jul 6 doi: 10.1007/s00701-023-05700-9. PMID: 37410186Free PMC Article
Wolf K, Krafft AJ, Egger K, Klingler JH, Hubbe U, Reisert M, Hohenhaus M
J Orthop Surg Res 2019 Oct 12;14(1):321. doi: 10.1186/s13018-019-1381-9. PMID: 31606049Free PMC Article
Ronzi Y, Perrouin-Verbe B, Hamel O, Gross R
Ann Phys Rehabil Med 2018 Jan;61(1):27-32. Epub 2017 Oct 6 doi: 10.1016/j.rehab.2017.09.003. PMID: 28993290
Shigematsu H, Cheung JP, Mak KC, Bruzzone M, Luk KD
J Orthop Sci 2017 Jan;22(1):22-26. Epub 2016 Oct 3 doi: 10.1016/j.jos.2016.09.008. PMID: 27713009
Takao T, Morishita Y, Okada S, Maeda T, Katoh F, Ueta T, Mori E, Yugue I, Kawano O, Shiba K
Eur Spine J 2013 Oct;22(10):2228-31. Epub 2013 Jun 23 doi: 10.1007/s00586-013-2865-7. PMID: 23793521Free PMC Article

Clinical prediction guides

Ohtake Y, Yasaka K, Hamada A, Fujita N, Abe O
J Comput Assist Tomogr 2023 Nov-Dec 01;47(6):996-1001. Epub 2023 Jun 9 doi: 10.1097/RCT.0000000000001490. PMID: 37948377
Lenga P, Papakonstantinou V, Kiening K, Unterberg AW, Ishak B
Acta Neurochir (Wien) 2023 Oct;165(10):3089-3096. Epub 2023 Jul 6 doi: 10.1007/s00701-023-05700-9. PMID: 37410186Free PMC Article
Luo CA, Kaliya-Perumal AK, Lu ML, Chen LH, Chen WJ, Niu CC
Eur Spine J 2019 Jan;28(1):61-68. Epub 2018 Oct 17 doi: 10.1007/s00586-018-5795-6. PMID: 30328532
Kothe R, Schmeiser G, Papavero L
Oper Orthop Traumatol 2018 Feb;30(1):3-12. Epub 2018 Jan 12 doi: 10.1007/s00064-017-0527-3. PMID: 29330570
Morishita Y, Naito M, Wang JC
Int Orthop 2011 Oct;35(10):1517-22. Epub 2010 Nov 27 doi: 10.1007/s00264-010-1169-3. PMID: 21113592Free PMC Article

Recent systematic reviews

Lenehan B, Fisher CG, Vaccaro A, Fehlings M, Aarabi B, Dvorak MF
Spine (Phila Pa 1976) 2010 Oct 1;35(21 Suppl):S180-6. doi: 10.1097/BRS.0b013e3181f32a44. PMID: 20881460

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