U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal sacral segmentation

MedGen UID:
370560
•Concept ID:
C1968942
•
Finding
HPO: HP:0008468

Definition

An abnormality related to a defect of vertebral separation of sacral vertebrae during development. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal sacral segmentation

Conditions with this feature

Acro-renal-mandibular syndrome
MedGen UID:
395425
•Concept ID:
C1860166
•
Disease or Syndrome
A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.
See: Condition Record
Acro-renal-mandibular syndrome

Professional guidelines

PubMed

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.
Metry D, Copp HL, Rialon KL, Iacobas I, Baselga E, Dobyns WB, Drolet B, Frieden IJ, Garzon M, Haggstrom A, Hanson D, Hollenbach L, Keppler-Noreuil KM, Maheshwari M, Siegel DH, Waseem S, Dias M
J Pediatr 2024 Sep;272:114101. Epub 2024 May 15 doi: 10.1016/j.jpeds.2024.114101. PMID: 38759778
Spinal Dorsal Intradural Arteriovenous Fistulas: Natural History, Imaging, and Management.
Essibayi MA, Srinivasan VM, Catapano JS, Graffeo CS, Lawton MT
Neurology 2023 Sep 19;101(12):524-535. Epub 2023 Apr 25 doi: 10.1212/WNL.0000000000207327. PMID: 37185123Free PMC Article
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.
Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M
Eur J Med Genet 2022 Jun;65(6):104517. Epub 2022 Apr 27 doi: 10.1016/j.ejmg.2022.104517. PMID: 35487416

Recent clinical studies

Etiology

Specific electromyography characteristics can distinguish longitudinally extensive transverse myelitis from congestive myelopathy due to spinal dural arteriovenous fistula: a retrospective study.
Zhao J, Lin Y, Xu S, Lu M, Huang D, Guan W
Br J Hosp Med (Lond) 2024 Jun 30;85(6):1-14. Epub 2024 Jun 19 doi: 10.12968/hmed.2024.0111. PMID: 38941974
Risks Associated with Surgical Management of Lumbosacral Transitional Vertebrae: Systematic Review of Surgical Considerations and Illustrative Case.
Albano S, Brown NJ, Pennington Z, Nguyen A, Hsu TI, Pham MH, Oh MY
World Neurosurg 2024 Jun;186:e54-e64. Epub 2024 Feb 11 doi: 10.1016/j.wneu.2024.02.033. PMID: 38350597
Identification of novel LFNG mutations in spondylocostal dysostosis.
Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K, Ikegawa S
J Hum Genet 2019 Mar;64(3):261-264. Epub 2018 Dec 10 doi: 10.1038/s10038-018-0548-2. PMID: 30531807
Prevalence of extraforaminal nerve root compression below lumbosacral transitional vertebrae.
Porter NA, Lalam RK, Tins BJ, Tyrrell PN, Singh J, Cassar-Pullicino VN
Skeletal Radiol 2014 Jan;43(1):55-60. Epub 2013 Oct 25 doi: 10.1007/s00256-013-1750-0. PMID: 24310344
Which patients need referral for anal sphincter electromyography?
Podnar S
Muscle Nerve 2006 Feb;33(2):278-82. doi: 10.1002/mus.20472. PMID: 16307442

Diagnosis

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.
Metry D, Copp HL, Rialon KL, Iacobas I, Baselga E, Dobyns WB, Drolet B, Frieden IJ, Garzon M, Haggstrom A, Hanson D, Hollenbach L, Keppler-Noreuil KM, Maheshwari M, Siegel DH, Waseem S, Dias M
J Pediatr 2024 Sep;272:114101. Epub 2024 May 15 doi: 10.1016/j.jpeds.2024.114101. PMID: 38759778
Clinical overlap of PHACE and LUMBAR syndromes.
Davenport R, Su JC, Nathalie J, Richmond CM, Yang Tan T, Robertson SJ
Pediatr Dermatol 2022 Sep;39(5):752-756. Epub 2022 Jul 27 doi: 10.1111/pde.15031. PMID: 35896169
Congenital musculoskeletal anomalies - key radiographic findings.
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.
Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483
Malformations of dorsal induction.
Kanekar S, Kaneda H, Shively A
Semin Ultrasound CT MR 2011 Jun;32(3):189-99. doi: 10.1053/j.sult.2011.02.009. PMID: 21596275

Therapy

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.
Yu L, Zhang Y, Li W, Mao J, Li Y, Wang H, Li C, Yang L, He W, Jia Y, Tang W, Zhou L, Zhang Z, Jia Y, Tang X, Zhao X, An Y
J Clin Immunol 2024 May 28;44(6):137. doi: 10.1007/s10875-024-01740-7. PMID: 38805163
Congenital musculoskeletal anomalies - key radiographic findings.
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Re-operation After Long-Segment Fusions for Adult Spinal Deformity: The Impact of Extending the Construct Below the Lumbar Spine.
Witiw CD, Fessler RG, Nguyen S, Mummaneni P, Anand N, Blaskiewicz D, Uribe J, Wang MY, Kanter AS, Okonkwo D, Park P, Deviren V, Akbarnia BA, Eastlack RK, Shaffrey C, Mundis GM Jr
Neurosurgery 2018 Feb 1;82(2):211-219. doi: 10.1093/neuros/nyx163. PMID: 28472486
LUMBAR syndrome: A case manifesting as cutaneous infantile hemangiomas of the lower extremity, perineum and gluteal region, and a review of published work.
Yu X, Zhang J, Wu Z, Liu M, Chen R, Gu Y, Li M, Yao Z
J Dermatol 2017 Jul;44(7):808-812. Epub 2017 Feb 13 doi: 10.1111/1346-8138.13763. PMID: 28191659
The role of sacral slope in lumbosacral fusion: a biomechanical study.
Drazin D, Hussain M, Harris J, Hao J, Phillips M, Kim TT, Johnson JP, Bucklen B
J Neurosurg Spine 2015 Dec;23(6):754-62. Epub 2015 Aug 14 doi: 10.3171/2015.3.SPINE14557. PMID: 26273763

Prognosis

Identification of novel LFNG mutations in spondylocostal dysostosis.
Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K, Ikegawa S
J Hum Genet 2019 Mar;64(3):261-264. Epub 2018 Dec 10 doi: 10.1038/s10038-018-0548-2. PMID: 30531807
PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.
Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483
Distal Rectal Skip-Segment Hirschsprung Disease and the Potential for False-Negative Diagnosis.
Coe A, Avansino JR, Kapur RP
Pediatr Dev Pathol 2016 Mar-Apr;19(2):123-31. Epub 2015 Sep 15 doi: 10.2350/15-08-1686-OA.1. PMID: 26372258
The clinical use of dermatomal somatosensory evoked potentials in lumbosacral spinal stenosis.
Storm SA, Kraft GH
Phys Med Rehabil Clin N Am 2004 Feb;15(1):107-15. doi: 10.1016/s1047-9651(03)00107-4. PMID: 15029901
Dural arteriovenous fistulae at the foramen magnum.
Reinges MH, Thron A, Mull M, Huffmann BC, Gilsbach JM
J Neurol 2001 Mar;248(3):197-203. doi: 10.1007/s004150170226. PMID: 11355153

Clinical prediction guides

Lumbosacral Transitional Vertebrae In Patients Visiting Tertiary Care Hospital Of Khyber Pakhtukhwa: A Radiological Study.
Aamir S, Imtiaz H, Rehman Z, Ambreen S, Ghani F, Naoureen A
J Ayub Med Coll Abbottabad 2020 Apr-Jun;32(2):234-237. PMID: 32584000
Distal Rectal Skip-Segment Hirschsprung Disease and the Potential for False-Negative Diagnosis.
Coe A, Avansino JR, Kapur RP
Pediatr Dev Pathol 2016 Mar-Apr;19(2):123-31. Epub 2015 Sep 15 doi: 10.2350/15-08-1686-OA.1. PMID: 26372258
Keyhole interlaminar dorsal rhizotomy for spastic diplegia in cerebral palsy.
Sindou M, Georgoulis G
Acta Neurochir (Wien) 2015 Jul;157(7):1187-96. Epub 2015 May 24 doi: 10.1007/s00701-015-2453-1. PMID: 26002713
Large spinal intraosseous arteriovenous fistula: case report.
Imajo Y, Kanchiku T, Yoshida Y, Nishida N, Taguchi T
J Neurosurg Spine 2015 Apr;22(4):406-8. Epub 2015 Jan 30 doi: 10.3171/2014.10.SPINE1487. PMID: 25635636
Palpatory accuracy of lumbar spinous processes using multiple bony landmarks.
Snider KT, Snider EJ, Degenhardt BF, Johnson JC, Kribs JW
J Manipulative Physiol Ther 2011 Jun;34(5):306-13. Epub 2011 May 14 doi: 10.1016/j.jmpt.2011.04.006. PMID: 21640254

Recent systematic reviews

Risks Associated with Surgical Management of Lumbosacral Transitional Vertebrae: Systematic Review of Surgical Considerations and Illustrative Case.
Albano S, Brown NJ, Pennington Z, Nguyen A, Hsu TI, Pham MH, Oh MY
World Neurosurg 2024 Jun;186:e54-e64. Epub 2024 Feb 11 doi: 10.1016/j.wneu.2024.02.033. PMID: 38350597

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...