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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 Pierre Robin sequence); and early-onset degenerative joint disease. 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

External Validation of the American Heart Association PREVENT Cardiovascular Disease Risk Equations.
Scheuermann B, Brown A, Colburn T, Hakeem H, Chow CH, Ade C
JAMA Netw Open 2024 Oct 1;7(10):e2438311. doi: 10.1001/jamanetworkopen.2024.38311. PMID: 39392632Free 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

Scheuermann's Kyphosis.
Graham P
Orthop Nurs 2023 Jan-Feb 01;42(1):53-55. doi: 10.1097/NOR.0000000000000914. PMID: 36702097
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

Therapy

Use of combination therapy is associated with improved LDL cholesterol management: 1-year follow-up results from the European observational SANTORINI study.
Ray KK, Aguiar C, Arca M, Connolly DL, Eriksson M, Ferrières J, Laufs U, Mostaza JM, Nanchen D, Bardet A, Lamparter M, Chhabra R, Soronen J, Rietzschel E, Strandberg T, Toplak H, Visseren FLJ, Catapano AL; SANTORINI Study Investigators
Eur J Prev Cardiol 2024 Nov 11;31(15):1792-1803. doi: 10.1093/eurjpc/zwae199. PMID: 38861400
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
Orthotics for spinal deformity.
Winter RB, Moe JH
Clin Orthop Relat Res 1974 Jul-Aug;(102):72-91. doi: 10.1097/00003086-197407000-00008. PMID: 4423248
Familial myeloma.
Boga M, Jákó J, Domán J, Magyar E, Konyár E
Folia Haematol Int Mag Klin Morphol Blutforsch 1973;100(3):201-12. PMID: 4130618

Prognosis

External Validation of the American Heart Association PREVENT Cardiovascular Disease Risk Equations.
Scheuermann B, Brown A, Colburn T, Hakeem H, Chow CH, Ade C
JAMA Netw Open 2024 Oct 1;7(10):e2438311. doi: 10.1001/jamanetworkopen.2024.38311. PMID: 39392632Free 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

External Validation of the American Heart Association PREVENT Cardiovascular Disease Risk Equations.
Scheuermann B, Brown A, Colburn T, Hakeem H, Chow CH, Ade C
JAMA Netw Open 2024 Oct 1;7(10):e2438311. doi: 10.1001/jamanetworkopen.2024.38311. PMID: 39392632Free 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
Scheuermann's kyphosis.
Ali RM, Green DW, Patel TC
Curr Opin Pediatr 1999 Feb;11(1):70-5. doi: 10.1097/00008480-199902000-00014. PMID: 10084088

Recent systematic reviews

Associations of Cerebrovascular Regulation and Arterial Stiffness With Cerebral Small Vessel Disease: A Systematic Review and Meta-Analysis.
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
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 2020 Feb 1;32(2):235-247. Epub 2019 Nov 1 doi: 10.3171/2019.8.SPINE19500. PMID: 31675699
Comparison Between Stable Sagittal Vertebra and First Lordotic Vertebra Instrumentation for Prevention of Distal Junctional Kyphosis in Scheuermann Disease: Systematic Review and Meta-analysis.
Gong Y, Yuan L, He M, Yu M, Zeng Y, Liu X, Chen Z
Clin Spine Surg 2019 Oct;32(8):330-336. doi: 10.1097/BSD.0000000000000792. PMID: 30762837
Spinal deformity and malocclusion association is not supported by high-quality studies: results from a systematic review of the literature.
Langella F, Fusini F, Rossi G, Villafañe JH, Migliaccio N, Donzelli S, Berjano P
Eur Spine J 2019 Jul;28(7):1638-1651. Epub 2019 Jan 23 doi: 10.1007/s00586-019-05896-4. PMID: 30673874
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

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