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Diastematomyelia

MedGen UID:
3801
Concept ID:
C0011999
Congenital Abnormality
Synonym: Diastematomyelias
SNOMED CT: Split cord malformation (445308004); Split spinal cord malformation (445308004); Split spinal cord (445308004); Diastematomyelia (445308004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
OMIM®: 222500
Orphanet: ORPHA1671

Definition

A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus. [from ORDO]

Clinical features

From HPO
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system that is present at birth or detected in the neonatal period.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiastematomyelia

Recent clinical studies

Etiology

Ge CY, Hao DJ, Shan LQ
World Neurosurg 2020 Jan;133:185-187. Epub 2019 Oct 10 doi: 10.1016/j.wneu.2019.09.165. PMID: 31606509
Senkoylu A, Cetinkaya M, Aktas E, Cetin E
Acta Orthop Traumatol Turc 2019 Mar;53(2):160-164. Epub 2019 Feb 2 doi: 10.1016/j.aott.2019.01.001. PMID: 30718132Free PMC Article
Vissarionov SV, Krutelev NA, Snischuk VP, Alam M, Kravchenko AP, Zheng YP, Khusainov NO
Spinal Cord Ser Cases 2018;4:109. Epub 2018 Dec 19 doi: 10.1038/s41394-018-0141-0. PMID: 30588335Free PMC Article
Maebe H, Viaene A, De Muynck M
Eur J Phys Rehabil Med 2018 Aug;54(4):618-621. Epub 2017 May 23 doi: 10.23736/S1973-9087.17.04709-8. PMID: 28534605
Huang SL, He XJ, Wang KZ, Lan BS
Spine (Phila Pa 1976) 2013 Mar 15;38(6):E344-9. doi: 10.1097/BRS.0b013e318283f6bc. PMID: 23492975

Diagnosis

Srinivasan ES, Mehta VA, Smith GC, Than KD, Terry AR
World Neurosurg 2020 Jul;139:274-280. Epub 2020 Apr 25 doi: 10.1016/j.wneu.2020.04.148. PMID: 32339744
Senkoylu A, Cetinkaya M, Aktas E, Cetin E
Acta Orthop Traumatol Turc 2019 Mar;53(2):160-164. Epub 2019 Feb 2 doi: 10.1016/j.aott.2019.01.001. PMID: 30718132Free PMC Article
Vissarionov SV, Krutelev NA, Snischuk VP, Alam M, Kravchenko AP, Zheng YP, Khusainov NO
Spinal Cord Ser Cases 2018;4:109. Epub 2018 Dec 19 doi: 10.1038/s41394-018-0141-0. PMID: 30588335Free PMC Article
Wei Q, Cai A, Wang X, Wang X, Xie L
J Ultrasound Med 2017 Jun;36(6):1129-1136. Epub 2017 Mar 17 doi: 10.7863/ultra.16.04054. PMID: 28304101
Huang SL, He XJ, Wang KZ, Lan BS
Spine (Phila Pa 1976) 2013 Mar 15;38(6):E344-9. doi: 10.1097/BRS.0b013e318283f6bc. PMID: 23492975

Therapy

Jagadeesh NH, Mallepally AR, Marathe N, Sharma A, Tandon V
World Neurosurg 2020 Aug;140:89-95. Epub 2020 May 11 doi: 10.1016/j.wneu.2020.05.039. PMID: 32407923
Shen J, Zhang J, Feng F, Wang Y, Qiu G, Li Z
J Bone Joint Surg Am 2016 Jun 1;98(11):926-36. doi: 10.2106/JBJS.15.00882. PMID: 27252437
Shivapathasundram G, Stoodley MA
J Clin Neurosci 2012 Apr;19(4):578-81. Epub 2012 Jan 14 doi: 10.1016/j.jocn.2011.08.018. PMID: 22245274
Lewandrowski KU, Rachlin JR, Glazer PA
Spine J 2004 Jan-Feb;4(1):116-9. doi: 10.1016/j.spinee.2003.08.028. PMID: 14749200
Uzumcugil A, Cil A, Yazici M, Acaroglu E, Alanay A, Akalan N, Ozisik P, Surat A
Spine (Phila Pa 1976) 2003 Apr 15;28(8):799-805. PMID: 12698124

Prognosis

Senkoylu A, Cetinkaya M, Aktas E, Cetin E
Acta Orthop Traumatol Turc 2019 Mar;53(2):160-164. Epub 2019 Feb 2 doi: 10.1016/j.aott.2019.01.001. PMID: 30718132Free PMC Article
Wei Q, Cai A, Wang X, Wang X, Xie L
J Ultrasound Med 2017 Jun;36(6):1129-1136. Epub 2017 Mar 17 doi: 10.7863/ultra.16.04054. PMID: 28304101
Huang SL, He XJ, Wang KZ, Lan BS
Spine (Phila Pa 1976) 2013 Mar 15;38(6):E344-9. doi: 10.1097/BRS.0b013e318283f6bc. PMID: 23492975
Cheng B, Li FT, Lin L
J Bone Joint Surg Br 2012 Mar;94(3):365-72. doi: 10.1302/0301-620X.94B3.27897. PMID: 22371545
Fatyga M, Latalski M, Raganowicz T, Gregosiewicz A
Ortop Traumatol Rehabil 2010 May-Jun;12(3):264-72. PMID: 20675868

Clinical prediction guides

Vissarionov SV, Krutelev NA, Snischuk VP, Alam M, Kravchenko AP, Zheng YP, Khusainov NO
Spinal Cord Ser Cases 2018;4:109. Epub 2018 Dec 19 doi: 10.1038/s41394-018-0141-0. PMID: 30588335Free PMC Article
Huang SL, He XJ, Wang KZ, Lan BS
Spine (Phila Pa 1976) 2013 Mar 15;38(6):E344-9. doi: 10.1097/BRS.0b013e318283f6bc. PMID: 23492975
Karaşahin KE, Gezginç K, Alanbay I, Ulubay M, Başer I
Taiwan J Obstet Gynecol 2009 Jun;48(2):163-6. doi: 10.1016/S1028-4559(09)60279-5. PMID: 19574180
Gan YC, Sgouros S, Walsh AR, Hockley AD
Childs Nerv Syst 2007 May;23(5):515-9. Epub 2006 Oct 7 doi: 10.1007/s00381-006-0205-5. PMID: 17028880
Tubbs RS, Smyth MD, Dure LS, Oakes WJ
Pediatr Neurosurg 2004 May-Jun;40(3):132-5. doi: 10.1159/000079856. PMID: 15367804

Recent systematic reviews

Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139Free PMC Article
Heyns A, Negrini S, Jansen K, Moens P, Schelfaut S, Peers K, Kiekens C
Am J Phys Med Rehabil 2018 Nov;97(11):848-854. doi: 10.1097/PHM.0000000000000966. PMID: 29757767

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