Cervical C5/C6 Vertebrae Fusion (Concept Id: C4025301) - NCBI

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Create FileAdd to ClipboardAdd to Collections Cervical C5/C6 vertebrae fusionMedGen UID: 870841 •Concept ID: C4025301 •Anatomical Abnormality

HPO:	HP:0004635

Definition Fusion of the C5 and C6 cervical vertebrae. [from HPO] Term Hierarchy

• GTR
• MeSH

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

• CROGVCervical C5/C6 vertebrae fusion

• Abnormal musculoskeletal physiology
  • Abnormal joint physiology
    • Abnormality of joint mobility
      • Synostosis of joints
        • Vertebral fusion
          • Fused cervical vertebrae
            • Cervical C5/C6 vertebrae fusion

Conditions with this feature Acrocephalosyndactyly type IMedGen UID: 7858 •Concept ID: C0001193 •Congenital Abnormality Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract. See: Condition Record Chromosome 16p13.3 duplication syndromeMedGen UID: 462058 •Concept ID: C3150708 •Disease or Syndrome 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. See: Condition Record Klippel-Feil syndrome 3, autosomal dominantMedGen UID: 462317 •Concept ID: C3150967 •Disease or Syndrome Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). See: Condition Record Acrocephalosyndactyly type I Chromosome 16p13.3 duplication syndrome Klippel-Feil syndrome 3, autosomal dominant Professional guidelines

PubMed

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management. Litrenta J, Bi AS, Dryer JW J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888 Clinical Presentation, Diagnosis, and Surgical Treatment of Spontaneous Cervical Intradural Disc Herniations: A Review of the Literature. Gunasekaran A, de Los Reyes NKM, Walters J, Kazemi N World Neurosurg 2018 Jan;109:275-284. Epub 2017 Oct 7 doi: 10.1016/j.wneu.2017.09.209. PMID: 29017982 Diagnosis and Treatment of C4 Radiculopathy. Ross DA, Ross MN Spine (Phila Pa 1976) 2016 Dec 1;41(23):1790-1794. doi: 10.1097/BRS.0000000000001620. PMID: 27054454 See all (6) These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the FAQ for details.These guidelines are manually curated by the MedGen team to supplement articles available in PubMed. See the FAQ for details. Recent clinical studiesAdditional literature that covers other topics related to this disease may be found in PubMed

Etiology

Radiographic and clinical findings associated with Klippel-Feil Syndrome: a case series. Santangelo G, Megas A, Mandalapu A, Haddas R, Mesfin A Spine Deform 2025 Jul;13(4):1189-1195. Epub 2025 Apr 14 doi: 10.1007/s43390-025-01072-5. PMID: 40227331 Pharyngesophageal Diverticula Following Anterior Cervical Discectomy and Fusion. Beesley H, Piraquive J, Jaleel Z, Tracy LF Ann Otol Rhinol Laryngol 2023 Jul;132(7):800-805. Epub 2022 Aug 1 doi: 10.1177/00034894221115745. PMID: 35915914 Anterior Reduction and Fusion of Cervical Facet Dislocations. Theodotou CB, Ghobrial GM, Middleton AL, Wang MY, Levi AD Neurosurgery 2019 Feb 1;84(2):388-395. doi: 10.1093/neuros/nyy032. PMID: 29547951 Outpatient anterior cervical discectomy: A French study and literature review. Gennari A, Mazas S, Coudert P, Gille O, Vital JM Orthop Traumatol Surg Res 2018 Sep;104(5):581-584. Epub 2018 Jun 12 doi: 10.1016/j.otsr.2018.04.014. PMID: 29902639 Feasibility and Biomechanics of Multilevel Arthroplasty and Combined Cervical Arthrodesis and Arthroplasty. Safavi-Abbasi S, Reyes PM, Abjornson C, Crawford NR Clin Spine Surg 2016 Dec;29(10):E522-E531. doi: 10.1097/BSD.0b013e31829920f0. PMID: 23698102 See all (122)

Diagnosis

Mild Changes in Sternocleidomastoid Muscle Quality Predict Pseudarthrosis After Anterior Cervical Discectomy and Fusion. Dalton J, Oris RJ, Ezeonu T, Narayanan R, Tomlak A, Heard JC, Lee YA, Farooqi AS, Berthiaume E, Kazantsev M, Hamid A, Khanna A, Mangan JJ, Canseco JA, Kaye ID, Kurd MF, Hilibrand AS, Vaccaro AR, Schroeder GD, Kepler C Spine (Phila Pa 1976) 2026 Mar 15;51(6):393-399. Epub 2025 Apr 16 doi: 10.1097/BRS.0000000000005360. PMID: 40237123 Radiographic and clinical findings associated with Klippel-Feil Syndrome: a case series. Santangelo G, Megas A, Mandalapu A, Haddas R, Mesfin A Spine Deform 2025 Jul;13(4):1189-1195. Epub 2025 Apr 14 doi: 10.1007/s43390-025-01072-5. PMID: 40227331 Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management. Litrenta J, Bi AS, Dryer JW J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888 Clinical Presentation, Diagnosis, and Surgical Treatment of Spontaneous Cervical Intradural Disc Herniations: A Review of the Literature. Gunasekaran A, de Los Reyes NKM, Walters J, Kazemi N World Neurosurg 2018 Jan;109:275-284. Epub 2017 Oct 7 doi: 10.1016/j.wneu.2017.09.209. PMID: 29017982 Diagnosis and Treatment of C4 Radiculopathy. Ross DA, Ross MN Spine (Phila Pa 1976) 2016 Dec 1;41(23):1790-1794. doi: 10.1097/BRS.0000000000001620. PMID: 27054454 See all (57)

Therapy

Mild Changes in Sternocleidomastoid Muscle Quality Predict Pseudarthrosis After Anterior Cervical Discectomy and Fusion. Dalton J, Oris RJ, Ezeonu T, Narayanan R, Tomlak A, Heard JC, Lee YA, Farooqi AS, Berthiaume E, Kazantsev M, Hamid A, Khanna A, Mangan JJ, Canseco JA, Kaye ID, Kurd MF, Hilibrand AS, Vaccaro AR, Schroeder GD, Kepler C Spine (Phila Pa 1976) 2026 Mar 15;51(6):393-399. Epub 2025 Apr 16 doi: 10.1097/BRS.0000000000005360. PMID: 40237123 Pharyngesophageal Diverticula Following Anterior Cervical Discectomy and Fusion. Beesley H, Piraquive J, Jaleel Z, Tracy LF Ann Otol Rhinol Laryngol 2023 Jul;132(7):800-805. Epub 2022 Aug 1 doi: 10.1177/00034894221115745. PMID: 35915914 Outpatient anterior cervical discectomy: A French study and literature review. Gennari A, Mazas S, Coudert P, Gille O, Vital JM Orthop Traumatol Surg Res 2018 Sep;104(5):581-584. Epub 2018 Jun 12 doi: 10.1016/j.otsr.2018.04.014. PMID: 29902639 Cervical Intradural Disc Herniation Causing Progressive Quadriparesis After Spinal Manipulation Therapy: A Case Report and Literature Review. Yang HS, Oh YM, Eun JP Medicine (Baltimore) 2016 Feb;95(6):e2797. doi: 10.1097/MD.0000000000002797. PMID: 26871842Free PMC Article Cervical myelopathy after cervical total disc arthroplasty: case report and literature review. Chen J, Wang X, Yuan W, Tang Y, Zhang Y, Wan M Spine (Phila Pa 1976) 2012 May 1;37(10):E624-8. doi: 10.1097/BRS.0b013e3182413930. PMID: 22146281 See all (72)

Prognosis

Mild Changes in Sternocleidomastoid Muscle Quality Predict Pseudarthrosis After Anterior Cervical Discectomy and Fusion. Dalton J, Oris RJ, Ezeonu T, Narayanan R, Tomlak A, Heard JC, Lee YA, Farooqi AS, Berthiaume E, Kazantsev M, Hamid A, Khanna A, Mangan JJ, Canseco JA, Kaye ID, Kurd MF, Hilibrand AS, Vaccaro AR, Schroeder GD, Kepler C Spine (Phila Pa 1976) 2026 Mar 15;51(6):393-399. Epub 2025 Apr 16 doi: 10.1097/BRS.0000000000005360. PMID: 40237123 Risk Factors for Adjacent Segment Disease Following Anterior Cervical Discectomy and Fusion with Plate Fixation: A Systematic Review and Meta-Analysis. Kwok WCH, Wong CYY, Law JHW, Tsang VWT, Tong LWL, Samartzis D, An HS, Wong AYL J Bone Joint Surg Am 2022 Nov 2;104(21):1915-1945. Epub 2022 Sep 16 doi: 10.2106/JBJS.21.01494. PMID: 36321969 Herniated Discs at the Cervicothoracic Junction. Ryu DS, Paik HK, Ahn SS, Kim KH, Chin DK, Kim KS, Cho YE, Kuh SU World Neurosurg 2018 Oct;118:e651-e658. Epub 2018 Jul 11 doi: 10.1016/j.wneu.2018.07.017. PMID: 30017762 Cervical Disk Replacement Combined With Cage Fusion for the Treatment of Multilevel Cervical Disk Herniation. Ren X, Chu T, Jiang T, Wang W, Wang J, Li C, Zhang Z Clin Spine Surg 2016 Jul;29(6):218-25. doi: 10.1097/BSD.0b013e31826994bb. PMID: 22832555 Adjacent segment disease after anterior cervical discectomy and fusion in a large series. Bydon M, Xu R, Macki M, De la Garza-Ramos R, Sciubba DM, Wolinsky JP, Witham TF, Gokaslan ZL, Bydon A Neurosurgery 2014 Feb;74(2):139-46 discussion 146. doi: 10.1227/NEU.0000000000000204. PMID: 24149977 See all (50)

Clinical prediction guides

Mild Changes in Sternocleidomastoid Muscle Quality Predict Pseudarthrosis After Anterior Cervical Discectomy and Fusion. Dalton J, Oris RJ, Ezeonu T, Narayanan R, Tomlak A, Heard JC, Lee YA, Farooqi AS, Berthiaume E, Kazantsev M, Hamid A, Khanna A, Mangan JJ, Canseco JA, Kaye ID, Kurd MF, Hilibrand AS, Vaccaro AR, Schroeder GD, Kepler C Spine (Phila Pa 1976) 2026 Mar 15;51(6):393-399. Epub 2025 Apr 16 doi: 10.1097/BRS.0000000000005360. PMID: 40237123 A Propensity Score-matched Analysis of Clinical Outcomes Between Single-level and Multilevel Intervertebral Decompression for Cervical Radiculopathy. Oshina M, Kawamura N, Hara N, Higashikawa A, Ono T, Takeshita Y, Azuma S, Fukushima M, Iwai H, Kaneko T, Inanami H, Oshima Y Spine (Phila Pa 1976) 2023 Feb 15;48(4):247-252. Epub 2022 Oct 13 doi: 10.1097/BRS.0000000000004508. PMID: 36255352Free PMC Article Safety and Effectiveness of the Flexible Cervical Implant: Preliminary Short-Term Clinical Results. Alvarez CE, Saal-Zapata G, Rodríguez-Varela R, Ginocchio F, Pacussich C World Neurosurg 2022 Feb;158:e122-e127. Epub 2021 Oct 20 doi: 10.1016/j.wneu.2021.10.122. PMID: 34687929 Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management. Litrenta J, Bi AS, Dryer JW J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888 Anterior Reduction and Fusion of Cervical Facet Dislocations. Theodotou CB, Ghobrial GM, Middleton AL, Wang MY, Levi AD Neurosurgery 2019 Feb 1;84(2):388-395. doi: 10.1093/neuros/nyy032. PMID: 29547951 See all (73) Recent systematic reviews Management of cervical fractures in ankylosing spondylitis: a ten-year systemic review of surgical and nonsurgical outcomes. Musa G, Phiri J, Ndandja DTK, Familia K, Barrientos REC, Mwela BM, Chmutin GE, Demetriades AK Neurosurg Rev 2025 Feb 14;48(1):234. doi: 10.1007/s10143-025-03413-4. PMID: 39951225 Risk Factors for Adjacent Segment Disease Following Anterior Cervical Discectomy and Fusion with Plate Fixation: A Systematic Review and Meta-Analysis. Kwok WCH, Wong CYY, Law JHW, Tsang VWT, Tong LWL, Samartzis D, An HS, Wong AYL J Bone Joint Surg Am 2022 Nov 2;104(21):1915-1945. Epub 2022 Sep 16 doi: 10.2106/JBJS.21.01494. PMID: 36321969 Anterior cervical discectomy and fusion in the setting of kissing carotids: A technical report and literature review. Mathkour M, Scullen T, Debakey M, Beighley A, Jawad B, Riffle J, Abou-Al-Shaar H, Tubbs RS, Kalyvas J Clin Neurol Neurosurg 2021 Jan;200:106366. Epub 2020 Nov 18 doi: 10.1016/j.clineuro.2020.106366. PMID: 33276217 Correlation Between Different Interbody Grafts and Pseudarthrosis After Anterior Cervical Discectomy and Fusion Compared with Control Group: Systematic Review. Iunes EA, Barletta EA, Barba Belsuzarri TA, Onishi FJ, Cavalheiro S, Joaquim AF World Neurosurg 2020 Feb;134:272-279. Epub 2019 Oct 24 doi: 10.1016/j.wneu.2019.10.100. PMID: 31669245 Predicting the risk of adjacent segment pathology in the cervical spine: a systematic review. Lawrence BD, Hilibrand AS, Brodt ED, Dettori JR, Brodke DS Spine (Phila Pa 1976) 2012 Oct 15;37(22 Suppl):S52-64. doi: 10.1097/BRS.0b013e31826d60fb. PMID: 22885828 See all (8)

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