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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.
Autosomal dominant inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on 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).
See: Feature record | Search on this feature

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).
See: Condition Record
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.
See: Condition Record
Juvenile osteochondrosis of spine
Stickler syndrome type 1

Professional guidelines

PubMed

Acute flaccid myelitis: cause, diagnosis, and management.
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
Scheuermann's Kyphosis: Diagnosis, Management, and Selecting Fusion Levels.
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
Scheuermann's disease: current diagnosis and treatment approach.
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

Efficacy and safety of intramuscular administration of tixagevimab-cilgavimab for early outpatient treatment of COVID-19 (TACKLE): a phase 3, randomised, double-blind, placebo-controlled trial.
Montgomery H, Hobbs FDR, Padilla F, Arbetter D, Templeton A, Seegobin S, Kim K, Campos JAS, Arends RH, Brodek BH, Brooks D, Garbes P, Jimenez J, Koh GCKW, Padilla KW, Streicher K, Viani RM, Alagappan V, Pangalos MN, Esser MT; TACKLE study group
Lancet Respir Med 2022 Oct;10(10):985-996. Epub 2022 Jun 7 doi: 10.1016/S2213-2600(22)00180-1. PMID: 35688164Free PMC Article
Acute flaccid myelitis: cause, diagnosis, and management.
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
Scheuermann's Kyphosis: Diagnosis, Management, and Selecting Fusion Levels.
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
Thoracic disc herniation: Surgical treatment.
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
Scheuermann's disease: an update.
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

Acute flaccid myelitis: cause, diagnosis, and management.
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
Pediatric Spine Disorders.
DePaola K, Cuddihy LA
Pediatr Clin North Am 2020 Feb;67(1):185-204. doi: 10.1016/j.pcl.2019.09.008. PMID: 31779832
Scheuermann's Kyphosis: Diagnosis, Management, and Selecting Fusion Levels.
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
Scheuermann's disease: current diagnosis and treatment approach.
Bezalel T, Carmeli E, Been E, Kalichman L
J Back Musculoskelet Rehabil 2014;27(4):383-90. doi: 10.3233/BMR-140483. PMID: 24898440
Scheuermann's disease: an update.
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

Therapy

Efficacy and safety of intramuscular administration of tixagevimab-cilgavimab for early outpatient treatment of COVID-19 (TACKLE): a phase 3, randomised, double-blind, placebo-controlled trial.
Montgomery H, Hobbs FDR, Padilla F, Arbetter D, Templeton A, Seegobin S, Kim K, Campos JAS, Arends RH, Brodek BH, Brooks D, Garbes P, Jimenez J, Koh GCKW, Padilla KW, Streicher K, Viani RM, Alagappan V, Pangalos MN, Esser MT; TACKLE study group
Lancet Respir Med 2022 Oct;10(10):985-996. Epub 2022 Jun 7 doi: 10.1016/S2213-2600(22)00180-1. PMID: 35688164Free PMC Article
Effects of Elexacaftor/Tezacaftor/Ivacaftor Therapy on CFTR Function in Patients with Cystic Fibrosis and One or Two F508del Alleles.
Graeber SY, Vitzthum C, Pallenberg ST, Naehrlich L, Stahl M, Rohrbach A, Drescher M, Minso R, Ringshausen FC, Rueckes-Nilges C, Klajda J, Berges J, Yu Y, Scheuermann H, Hirtz S, Sommerburg O, Dittrich AM, Tümmler B, Mall MA
Am J Respir Crit Care Med 2022 Mar 1;205(5):540-549. doi: 10.1164/rccm.202110-2249OC. PMID: 34936849
Scheuermann's Kyphosis: Diagnosis, Management, and Selecting Fusion Levels.
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
Thoracic disc herniation: Surgical treatment.
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
Scheuermann's kyphosis; current controversies.
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

Efficacy and safety of intramuscular administration of tixagevimab-cilgavimab for early outpatient treatment of COVID-19 (TACKLE): a phase 3, randomised, double-blind, placebo-controlled trial.
Montgomery H, Hobbs FDR, Padilla F, Arbetter D, Templeton A, Seegobin S, Kim K, Campos JAS, Arends RH, Brodek BH, Brooks D, Garbes P, Jimenez J, Koh GCKW, Padilla KW, Streicher K, Viani RM, Alagappan V, Pangalos MN, Esser MT; TACKLE study group
Lancet Respir Med 2022 Oct;10(10):985-996. Epub 2022 Jun 7 doi: 10.1016/S2213-2600(22)00180-1. PMID: 35688164Free PMC Article
Acute flaccid myelitis: cause, diagnosis, and management.
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
Conserved cell types with divergent features in human versus mouse cortex.
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
Scheuermann's Kyphosis: Diagnosis, Management, and Selecting Fusion Levels.
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
Scheuermann's disease: current diagnosis and treatment approach.
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

Animal Models of Enterovirus D68 Infection and Disease.
Vermillion MS, Dearing J, Zhang Y, Adney DR, Scheuermann RH, Pekosz A, Tarbet EB
J Virol 2022 Aug 10;96(15):e0083322. Epub 2022 Jul 19 doi: 10.1128/jvi.00833-22. PMID: 35852353Free PMC Article
Efficacy and safety of intramuscular administration of tixagevimab-cilgavimab for early outpatient treatment of COVID-19 (TACKLE): a phase 3, randomised, double-blind, placebo-controlled trial.
Montgomery H, Hobbs FDR, Padilla F, Arbetter D, Templeton A, Seegobin S, Kim K, Campos JAS, Arends RH, Brodek BH, Brooks D, Garbes P, Jimenez J, Koh GCKW, Padilla KW, Streicher K, Viani RM, Alagappan V, Pangalos MN, Esser MT; TACKLE study group
Lancet Respir Med 2022 Oct;10(10):985-996. Epub 2022 Jun 7 doi: 10.1016/S2213-2600(22)00180-1. PMID: 35688164Free PMC Article
Conserved cell types with divergent features in human versus mouse cortex.
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
Scheuermann's Kyphosis: Diagnosis, Management, and Selecting Fusion Levels.
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
Scheuermann's disease: current diagnosis and treatment approach.
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 systematic reviews

Treatment approaches for Scheuermann kyphosis: a systematic review of historic and current management.
Huq S, Ehresman J, Cottrill E, Ahmed AK, Pennington Z, Westbroek EM, Sciubba DM
J Neurosurg Spine 2019 Nov 1;32(2):235-247. doi: 10.3171/2019.8.SPINE19500. PMID: 31675699
Anterior release for Scheuermann's disease: a systematic literature review and meta-analysis.
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
Scheuermann's Kyphosis: an update.
Tsirikos AI
J Surg Orthop Adv 2009 Fall;18(3):122-8. PMID: 19843436
Imaging of low back pain in children and adolescents.
Faingold R, Saigal G, Azouz EM, Morales A, Albuquerque PA
Semin Ultrasound CT MR 2004 Dec;25(6):490-505. doi: 10.1053/j.sult.2004.09.005. PMID: 15663319
Spinal radiographic findings and nonspecific low back pain. A systematic review of observational studies.
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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