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Spinal cord compression

MedGen UID:
11549
Concept ID:
C0037926
Disease or Syndrome
Synonyms: Compression, Spinal Cord; Compressions, Spinal Cord; Compressive Myelopathy; Extramedullary Spinal Cord Compression; Myelopathy, Compressive; Spinal Cord Compression; Spinal Cord Compression, Extramedullary; Spinal Cord Compressions
SNOMED CT: Spinal cord compression (71286001); SCC - Spinal cord compression (71286001); Compression of spinal cord (71286001)
 
HPO: HP:0002176

Definition

External mechanical compression of the spinal cord. [from HPO]

Conditions with this feature

Proteus syndrome
MedGen UID:
39008
Concept ID:
C0085261
Neoplastic Process
Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals Proteus syndrome has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.
Larsen syndrome
MedGen UID:
104500
Concept ID:
C0175778
Disease or Syndrome
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.
Diastrophic dysplasia
MedGen UID:
113103
Concept ID:
C0220726
Disease or Syndrome
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.
Brachyrachia (short spine dysplasia)
MedGen UID:
96583
Concept ID:
C0432227
Congenital Abnormality
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Familial X-linked hypophosphatemic vitamin D refractory rickets
MedGen UID:
196551
Concept ID:
C0733682
Disease or Syndrome
The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. XLH frequently manifests in the first two years of life when lower-extremity bowing becomes evident with the onset of weight bearing; however, it sometimes is not manifest until adulthood, as previously unevaluated short stature. In adults, enthesopathy (calcification of the tendons, ligaments, and joint capsules) associated with joint pain and impaired mobility may be the initial presenting complaint. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported.
Microcephaly-cervical spine fusion anomalies syndrome
MedGen UID:
208663
Concept ID:
C0796066
Disease or Syndrome
A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
MedGen UID:
722057
Concept ID:
C1300285
Disease or Syndrome
Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech and motor) is delayed; cognition is normal. Other findings can include hearing loss (conductive, sensorineural, and mixed), lamellar cataracts, and/or rod-cone retinal dystrophy. To date, 16 affected individuals have been reported.
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Ossification of the posterior longitudinal ligament of the spine
MedGen UID:
355447
Concept ID:
C1865343
Disease or Syndrome
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016).
Neuroblastoma, susceptibility to, 1
MedGen UID:
412713
Concept ID:
C2749485
Finding
Hereditary spastic paraplegia 25
MedGen UID:
424835
Concept ID:
C2936860
Disease or Syndrome
A rare complex type of hereditary spastic paraplegia with characteristics of adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The phenotype has been mapped to a locus on chromosome 6q23-q24.1.
Seckel syndrome 8
MedGen UID:
856014
Concept ID:
C3891452
Disease or Syndrome
Seckel syndrome-8 (SCKL8) is characterized by severe microcephaly and markedly reduced height. Some patients have bird-like facies and exhibit developmental delays (Shaheen et al., 2014; Tarnauskaite et al., 2019). For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MedGen UID:
865814
Concept ID:
C4017377
Disease or Syndrome
Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
Anauxetic dysplasia 3
MedGen UID:
1718444
Concept ID:
C5394289
Disease or Syndrome
Anauxetic dysplasia-3 (ANXD3) is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. Radiographs show short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays (Narayanan et al., 2019). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).

Professional guidelines

PubMed

McCormick JR, Sama AJ, Schiller NC, Butler AJ, Donnally CJ 3rd
J Am Board Fam Med 2020 Mar-Apr;33(2):303-313. doi: 10.3122/jabfm.2020.02.190195. PMID: 32179614
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J Clin Oncol 2019 Jan 1;37(1):61-71. Epub 2018 Nov 5 doi: 10.1200/JCO.2018.78.1211. PMID: 30395488
Higdon ML, Atkinson CJ, Lawrence KV
Am Fam Physician 2018 Jun 1;97(11):741-748. PMID: 30215936

Recent clinical studies

Etiology

Aycan A, Eren B, Tas A, Celik S, Karagoz Guzey F, Kuyumcu F, Akyol ME, Saglam E, Aycan N
Eur Rev Med Pharmacol Sci 2023 Jul;27(13):6121-6131. doi: 10.26355/eurrev_202307_32968. PMID: 37458664
Kpelao E, Doleagbenou AK, El Kader Moumouni A, Ahanogbe H, Mona A, Lawson D, Egu K, Beketi AK
World Neurosurg 2022 Jun;162:e542-e545. Epub 2022 Mar 18 doi: 10.1016/j.wneu.2022.03.063. PMID: 35314413
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J R Coll Physicians Edinb 2019 Jun;49(2):151-156. doi: 10.4997/JRCPE.2019.217. PMID: 31188350
Boussios S, Cooke D, Hayward C, Kanellos FS, Tsiouris AK, Chatziantoniou AA, Zakynthinakis-Kyriakou N, Karathanasi A
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Yoshihara H
J Clin Neurosci 2017 Oct;44:63-68. Epub 2017 Jul 5 doi: 10.1016/j.jocn.2017.06.061. PMID: 28688624

Diagnosis

Kpelao E, Doleagbenou AK, El Kader Moumouni A, Ahanogbe H, Mona A, Lawson D, Egu K, Beketi AK
World Neurosurg 2022 Jun;162:e542-e545. Epub 2022 Mar 18 doi: 10.1016/j.wneu.2022.03.063. PMID: 35314413
Patnaik S, Turner J, Inaparthy P, Kieffer WK
Br J Hosp Med (Lond) 2020 Apr 2;81(4):1-10. doi: 10.12968/hmed.2019.0399. PMID: 32339020
Macdonald AG, Lynch D, Garbett I, Nazeer N
J R Coll Physicians Edinb 2019 Jun;49(2):151-156. doi: 10.4997/JRCPE.2019.217. PMID: 31188350
Lawton AJ, Lee KA, Cheville AL, Ferrone ML, Rades D, Balboni TA, Abrahm JL
J Clin Oncol 2019 Jan 1;37(1):61-71. Epub 2018 Nov 5 doi: 10.1200/JCO.2018.78.1211. PMID: 30395488
Ropper AE, Ropper AH
N Engl J Med 2017 Apr 6;376(14):1358-1369. doi: 10.1056/NEJMra1516539. PMID: 28379788

Therapy

Johnstone C, Recht A
Int J Radiat Oncol Biol Phys 2020 Nov 1;108(3):572-574. doi: 10.1016/j.ijrobp.2020.04.004. PMID: 32976786
Patnaik S, Turner J, Inaparthy P, Kieffer WK
Br J Hosp Med (Lond) 2020 Apr 2;81(4):1-10. doi: 10.12968/hmed.2019.0399. PMID: 32339020
Lawton AJ, Lee KA, Cheville AL, Ferrone ML, Rades D, Balboni TA, Abrahm JL
J Clin Oncol 2019 Jan 1;37(1):61-71. Epub 2018 Nov 5 doi: 10.1200/JCO.2018.78.1211. PMID: 30395488
Zaina F, Tomkins-Lane C, Carragee E, Negrini S
Cochrane Database Syst Rev 2016 Jan 29;2016(1):CD010264. doi: 10.1002/14651858.CD010264.pub2. PMID: 26824399Free PMC Article
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Prognosis

Tsang DS, Vargo JA, Goddard K, Breneman JC, Kalapurakal JA, Marcus KJ
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28292. doi: 10.1002/pbc.28292. PMID: 33818881
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Clinical prediction guides

Aycan A, Eren B, Tas A, Celik S, Karagoz Guzey F, Kuyumcu F, Akyol ME, Saglam E, Aycan N
Eur Rev Med Pharmacol Sci 2023 Jul;27(13):6121-6131. doi: 10.26355/eurrev_202307_32968. PMID: 37458664
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Asian Pac J Cancer Prev 2022 Feb 1;23(2):623-630. doi: 10.31557/APJCP.2022.23.2.623. PMID: 35225475Free PMC Article
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Recent systematic reviews

Stanners M, O'Riordan M, Theodosiou E, Souppez JRG, Gardner A
Spine J 2024 Jul;24(7):1302-1312. Epub 2024 Mar 1 doi: 10.1016/j.spinee.2024.02.022. PMID: 38432298
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Eur Rev Med Pharmacol Sci 2019 Apr;23(2 Suppl):117-128. doi: 10.26355/eurrev_201904_17481. PMID: 30977878
Kumar A, Weber MH, Gokaslan Z, Wolinsky JP, Schmidt M, Rhines L, Fehlings MG, Laufer I, Sciubba DM, Clarke MJ, Sundaresan N, Verlaan JJ, Sahgal A, Chou D, Fisher CG
Clin Spine Surg 2017 May;30(4):156-163. doi: 10.1097/BSD.0000000000000528. PMID: 28437329
Zaina F, Tomkins-Lane C, Carragee E, Negrini S
Cochrane Database Syst Rev 2016 Jan 29;2016(1):CD010264. doi: 10.1002/14651858.CD010264.pub2. PMID: 26824399Free PMC Article

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