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Juvenile osteochondrosis of spine

MedGen UID:
19885
Concept ID:
C0036310
Disease or Syndrome
Synonyms: Juvenile kyphosis; Morbus Scheuermann; Scheuermann disease; SCHEUERMANN JUVENILE KYPHOSIS; SPINAL OSTEOCHONDROSIS
SNOMED CT: Osteochondritis of the spine (53406005); Juvenile osteochondritis of the spine (53406005); Juvenile osteochondrosis of spine (53406005); Juvenile osteochondrosis of vertebral epiphyses (53406005); Vertebral epiphysitis (53406005); Kyphosis dorsalis juvenilis (53406005); Juvenile kyphosis (53406005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
HPO: HP:0010891
Monarch Initiative: MONDO:0008410
OMIM®: 181440
Orphanet: ORPHA3135

Definition

Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992). [from OMIM]

Clinical features

From HPO
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Osteochondrosis
MedGen UID:
18216
Concept ID:
C0029429
Disease or Syndrome
Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.
Juvenile osteochondrosis of spine
MedGen UID:
19885
Concept ID:
C0036310
Disease or Syndrome
Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJuvenile osteochondrosis of spine
Follow this link to review classifications for Juvenile osteochondrosis of spine in Orphanet.

Conditions with this feature

Juvenile osteochondrosis of spine
MedGen UID:
19885
Concept ID:
C0036310
Disease or Syndrome
Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992).
Stickler syndrome type 1
MedGen UID:
810955
Concept ID:
C2020284
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.

Professional guidelines

PubMed

Murphy OC, Messacar K, Benson L, Bove R, Carpenter JL, Crawford T, Dean J, DeBiasi R, Desai J, Elrick MJ, Farias-Moeller R, Gombolay GY, Greenberg B, Harmelink M, Hong S, Hopkins SE, Oleszek J, Otten C, Sadowsky CL, Schreiner TL, Thakur KT, Van Haren K, Carballo CM, Chong PF, Fall A, Gowda VK, Helfferich J, Kira R, Lim M, Lopez EL, Wells EM, Yeh EA, Pardo CA; AFM working group
Lancet 2021 Jan 23;397(10271):334-346. Epub 2020 Dec 23 doi: 10.1016/S0140-6736(20)32723-9. PMID: 33357469Free PMC Article
Sardar ZM, Ames RJ, Lenke L
J Am Acad Orthop Surg 2019 May 15;27(10):e462-e472. doi: 10.5435/JAAOS-D-17-00748. PMID: 30407981
Bezalel T, Carmeli E, Been E, Kalichman L
J Back Musculoskelet Rehabil 2014;27(4):383-90. doi: 10.3233/BMR-140483. PMID: 24898440

Recent clinical studies

Etiology

DeGrace MM, Ghedin E, Frieman MB, Krammer F, Grifoni A, Alisoltani A, Alter G, Amara RR, Baric RS, Barouch DH, Bloom JD, Bloyet LM, Bonenfant G, Boon ACM, Boritz EA, Bratt DL, Bricker TL, Brown L, Buchser WJ, Carreño JM, Cohen-Lavi L, Darling TL, Davis-Gardner ME, Dearlove BL, Di H, Dittmann M, Doria-Rose NA, Douek DC, Drosten C, Edara VV, Ellebedy A, Fabrizio TP, Ferrari G, Fischer WM, Florence WC, Fouchier RAM, Franks J, García-Sastre A, Godzik A, Gonzalez-Reiche AS, Gordon A, Haagmans BL, Halfmann PJ, Ho DD, Holbrook MR, Huang Y, James SL, Jaroszewski L, Jeevan T, Johnson RM, Jones TC, Joshi A, Kawaoka Y, Kercher L, Koopmans MPG, Korber B, Koren E, Koup RA, LeGresley EB, Lemieux JE, Liebeskind MJ, Liu Z, Livingston B, Logue JP, Luo Y, McDermott AB, McElrath MJ, Meliopoulos VA, Menachery VD, Montefiori DC, Mühlemann B, Munster VJ, Munt JE, Nair MS, Netzl A, Niewiadomska AM, O'Dell S, Pekosz A, Perlman S, Pontelli MC, Rockx B, Rolland M, Rothlauf PW, Sacharen S, Scheuermann RH, Schmidt SD, Schotsaert M, Schultz-Cherry S, Seder RA, Sedova M, Sette A, Shabman RS, Shen X, Shi PY, Shukla M, Simon V, Stumpf S, Sullivan NJ, Thackray LB, Theiler J, Thomas PG, Trifkovic S, Türeli S, Turner SA, Vakaki MA, van Bakel H, VanBlargan LA, Vincent LR, Wallace ZS, Wang L, Wang M, Wang P, Wang W, Weaver SC, Webby RJ, Weiss CD, Wentworth DE, Weston SM, Whelan SPJ, Whitener BM, Wilks SH, Xie X, Ying B, Yoon H, Zhou B, Hertz T, Smith DJ, Diamond MS, Post DJ, Suthar MS
Nature 2022 May;605(7911):640-652. Epub 2022 Mar 31 doi: 10.1038/s41586-022-04690-5. PMID: 35361968Free PMC Article
Murphy OC, Messacar K, Benson L, Bove R, Carpenter JL, Crawford T, Dean J, DeBiasi R, Desai J, Elrick MJ, Farias-Moeller R, Gombolay GY, Greenberg B, Harmelink M, Hong S, Hopkins SE, Oleszek J, Otten C, Sadowsky CL, Schreiner TL, Thakur KT, Van Haren K, Carballo CM, Chong PF, Fall A, Gowda VK, Helfferich J, Kira R, Lim M, Lopez EL, Wells EM, Yeh EA, Pardo CA; AFM working group
Lancet 2021 Jan 23;397(10271):334-346. Epub 2020 Dec 23 doi: 10.1016/S0140-6736(20)32723-9. PMID: 33357469Free PMC Article
Sardar ZM, Ames RJ, Lenke L
J Am Acad Orthop Surg 2019 May 15;27(10):e462-e472. doi: 10.5435/JAAOS-D-17-00748. PMID: 30407981
Court C, Mansour E, Bouthors C
Orthop Traumatol Surg Res 2018 Feb;104(1S):S31-S40. Epub 2017 Dec 7 doi: 10.1016/j.otsr.2017.04.022. PMID: 29225115
Palazzo C, Sailhan F, Revel M
Joint Bone Spine 2014 May;81(3):209-14. Epub 2014 Jan 24 doi: 10.1016/j.jbspin.2013.11.012. PMID: 24468666

Diagnosis

Murphy OC, Messacar K, Benson L, Bove R, Carpenter JL, Crawford T, Dean J, DeBiasi R, Desai J, Elrick MJ, Farias-Moeller R, Gombolay GY, Greenberg B, Harmelink M, Hong S, Hopkins SE, Oleszek J, Otten C, Sadowsky CL, Schreiner TL, Thakur KT, Van Haren K, Carballo CM, Chong PF, Fall A, Gowda VK, Helfferich J, Kira R, Lim M, Lopez EL, Wells EM, Yeh EA, Pardo CA; AFM working group
Lancet 2021 Jan 23;397(10271):334-346. Epub 2020 Dec 23 doi: 10.1016/S0140-6736(20)32723-9. PMID: 33357469Free PMC Article
DePaola K, Cuddihy LA
Pediatr Clin North Am 2020 Feb;67(1):185-204. doi: 10.1016/j.pcl.2019.09.008. PMID: 31779832
Sardar ZM, Ames RJ, Lenke L
J Am Acad Orthop Surg 2019 May 15;27(10):e462-e472. doi: 10.5435/JAAOS-D-17-00748. PMID: 30407981
Bezalel T, Carmeli E, Been E, Kalichman L
J Back Musculoskelet Rehabil 2014;27(4):383-90. doi: 10.3233/BMR-140483. PMID: 24898440
Lowe TG
Neurosurg Clin N Am 2007 Apr;18(2):305-15. doi: 10.1016/j.nec.2007.02.011. PMID: 17556132

Therapy

Scheuermann BC, Parr SK, Schulze KM, Kunkel ON, Turpin VG, Liang J, Ade CJ
J Am Heart Assoc 2023 Dec 5;12(23):e032616. Epub 2023 Nov 28 doi: 10.1161/JAHA.123.032616. PMID: 37930079Free PMC Article
Sardar ZM, Ames RJ, Lenke L
J Am Acad Orthop Surg 2019 May 15;27(10):e462-e472. doi: 10.5435/JAAOS-D-17-00748. PMID: 30407981
Court C, Mansour E, Bouthors C
Orthop Traumatol Surg Res 2018 Feb;104(1S):S31-S40. Epub 2017 Dec 7 doi: 10.1016/j.otsr.2017.04.022. PMID: 29225115
Cho SK, Kim YJ, Lenke LG
J Am Acad Orthop Surg 2015 Jul;23(7):408-14. Epub 2015 May 21 doi: 10.5435/JAAOS-D-14-00143. PMID: 26002936
Tsirikos AI, Jain AK
J Bone Joint Surg Br 2011 Jul;93(7):857-64. doi: 10.1302/0301-620X.93B7.26129. PMID: 21705553

Prognosis

Grifoni A, Zhang Y, Tarke A, Sidney J, Rubiro P, Reina-Campos M, Filaci G, Dan JM, Scheuermann RH, Sette A
Cell Host Microbe 2022 Dec 14;30(12):1662-1670.e4. Epub 2022 Dec 3 doi: 10.1016/j.chom.2022.11.003. PMID: 36463861Free PMC Article
Murphy OC, Messacar K, Benson L, Bove R, Carpenter JL, Crawford T, Dean J, DeBiasi R, Desai J, Elrick MJ, Farias-Moeller R, Gombolay GY, Greenberg B, Harmelink M, Hong S, Hopkins SE, Oleszek J, Otten C, Sadowsky CL, Schreiner TL, Thakur KT, Van Haren K, Carballo CM, Chong PF, Fall A, Gowda VK, Helfferich J, Kira R, Lim M, Lopez EL, Wells EM, Yeh EA, Pardo CA; AFM working group
Lancet 2021 Jan 23;397(10271):334-346. Epub 2020 Dec 23 doi: 10.1016/S0140-6736(20)32723-9. PMID: 33357469Free PMC Article
Hodge RD, Bakken TE, Miller JA, Smith KA, Barkan ER, Graybuck LT, Close JL, Long B, Johansen N, Penn O, Yao Z, Eggermont J, Höllt T, Levi BP, Shehata SI, Aevermann B, Beller A, Bertagnolli D, Brouner K, Casper T, Cobbs C, Dalley R, Dee N, Ding SL, Ellenbogen RG, Fong O, Garren E, Goldy J, Gwinn RP, Hirschstein D, Keene CD, Keshk M, Ko AL, Lathia K, Mahfouz A, Maltzer Z, McGraw M, Nguyen TN, Nyhus J, Ojemann JG, Oldre A, Parry S, Reynolds S, Rimorin C, Shapovalova NV, Somasundaram S, Szafer A, Thomsen ER, Tieu M, Quon G, Scheuermann RH, Yuste R, Sunkin SM, Lelieveldt B, Feng D, Ng L, Bernard A, Hawrylycz M, Phillips JW, Tasic B, Zeng H, Jones AR, Koch C, Lein ES
Nature 2019 Sep;573(7772):61-68. Epub 2019 Aug 21 doi: 10.1038/s41586-019-1506-7. PMID: 31435019Free PMC Article
Sardar ZM, Ames RJ, Lenke L
J Am Acad Orthop Surg 2019 May 15;27(10):e462-e472. doi: 10.5435/JAAOS-D-17-00748. PMID: 30407981
Bezalel T, Carmeli E, Been E, Kalichman L
J Back Musculoskelet Rehabil 2014;27(4):383-90. doi: 10.3233/BMR-140483. PMID: 24898440

Clinical prediction guides

Grifoni A, Zhang Y, Tarke A, Sidney J, Rubiro P, Reina-Campos M, Filaci G, Dan JM, Scheuermann RH, Sette A
Cell Host Microbe 2022 Dec 14;30(12):1662-1670.e4. Epub 2022 Dec 3 doi: 10.1016/j.chom.2022.11.003. PMID: 36463861Free PMC Article
Hodge RD, Bakken TE, Miller JA, Smith KA, Barkan ER, Graybuck LT, Close JL, Long B, Johansen N, Penn O, Yao Z, Eggermont J, Höllt T, Levi BP, Shehata SI, Aevermann B, Beller A, Bertagnolli D, Brouner K, Casper T, Cobbs C, Dalley R, Dee N, Ding SL, Ellenbogen RG, Fong O, Garren E, Goldy J, Gwinn RP, Hirschstein D, Keene CD, Keshk M, Ko AL, Lathia K, Mahfouz A, Maltzer Z, McGraw M, Nguyen TN, Nyhus J, Ojemann JG, Oldre A, Parry S, Reynolds S, Rimorin C, Shapovalova NV, Somasundaram S, Szafer A, Thomsen ER, Tieu M, Quon G, Scheuermann RH, Yuste R, Sunkin SM, Lelieveldt B, Feng D, Ng L, Bernard A, Hawrylycz M, Phillips JW, Tasic B, Zeng H, Jones AR, Koch C, Lein ES
Nature 2019 Sep;573(7772):61-68. Epub 2019 Aug 21 doi: 10.1038/s41586-019-1506-7. PMID: 31435019Free PMC Article
Sardar ZM, Ames RJ, Lenke L
J Am Acad Orthop Surg 2019 May 15;27(10):e462-e472. doi: 10.5435/JAAOS-D-17-00748. PMID: 30407981
Bezalel T, Carmeli E, Been E, Kalichman L
J Back Musculoskelet Rehabil 2014;27(4):383-90. doi: 10.3233/BMR-140483. PMID: 24898440
Pizzutillo PD
Instr Course Lect 2004;53:485-91. PMID: 15116637

Recent systematic reviews

Scheuermann BC, Parr SK, Schulze KM, Kunkel ON, Turpin VG, Liang J, Ade CJ
J Am Heart Assoc 2023 Dec 5;12(23):e032616. Epub 2023 Nov 28 doi: 10.1161/JAHA.123.032616. PMID: 37930079Free PMC Article
Huq S, Ehresman J, Cottrill E, Ahmed AK, Pennington Z, Westbroek EM, Sciubba DM
J Neurosurg Spine 2020 Feb 1;32(2):235-247. Epub 2019 Nov 1 doi: 10.3171/2019.8.SPINE19500. PMID: 31675699
Yun C, Shen CL
Eur Spine J 2017 Mar;26(3):921-927. Epub 2016 Jul 6 doi: 10.1007/s00586-016-4632-z. PMID: 27384777
Tsirikos AI
J Surg Orthop Adv 2009 Fall;18(3):122-8. PMID: 19843436
van Tulder MW, Assendelft WJ, Koes BW, Bouter LM
Spine (Phila Pa 1976) 1997 Feb 15;22(4):427-34. doi: 10.1097/00007632-199702150-00015. PMID: 9055372

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