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Osteochondritis dissecans

MedGen UID:
10494
Concept ID:
C0029421
Disease or Syndrome
Synonyms: Dissecans, Osteochondritis; Osteochondritis Dissecans
SNOMED CT: Osteochondritis dissecans (82562007); Osteochondrosis dissecans (82562007); OCD - Osteochondritis dissecans (82562007); OD - Osteochondritis dissecans (82562007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0010886
Monarch Initiative: MONDO:0017178
Orphanet: ORPHA2764

Definition

A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteochondritis dissecans
Follow this link to review classifications for Osteochondritis dissecans in Orphanet.

Conditions with this feature

Blount disease, infantile
MedGen UID:
65091
Concept ID:
C0220757
Disease or Syndrome
Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).
Metaphyseal chondrodysplasia, Spahr type
MedGen UID:
140928
Concept ID:
C0432225
Disease or Syndrome
A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.
Epiphyseal dysplasia, multiple, 2
MedGen UID:
333092
Concept ID:
C1838429
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Blount disease, adolescent
MedGen UID:
462922
Concept ID:
C3151572
Disease or Syndrome
Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
MedGen UID:
777109
Concept ID:
C3665488
Disease or Syndrome
Patients with short sature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis, as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (summary by Dateki et al., 2017). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away.
Meier-Gorlin syndrome 1
MedGen UID:
1641240
Concept ID:
C4552001
Disease or Syndrome
The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.
Loeys-Dietz syndrome 6
MedGen UID:
1794251
Concept ID:
C5562041
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.

Professional guidelines

PubMed

Chau MM, Klimstra MA, Wise KL, Ellermann JM, Tóth F, Carlson CS, Nelson BJ, Tompkins MA
J Bone Joint Surg Am 2021 Jun 16;103(12):1132-1151. doi: 10.2106/JBJS.20.01399. PMID: 34109940Free PMC Article
Desai N, Vance DD, Rosenwasser MP, Ahmad CS
J Am Acad Orthop Surg 2019 Jul 1;27(13):459-467. doi: 10.5435/JAAOS-D-18-00147. PMID: 31232791
Milewski MD, Nissen CW
Clin Sports Med 2014 Apr;33(2):xiii-xiv. Epub 2014 Feb 12 doi: 10.1016/j.csm.2014.01.005. PMID: 24698051

Recent clinical studies

Etiology

Hashim SS, Morgan C, Sarraf KM
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Aicale R, Tarantino D, Maffulli N
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Glait SA, Rokito AS, Jazrawi LM
Bull Hosp Jt Dis (2013) 2016 Mar;74(1):37-45. PMID: 26977547
Nissen CW
Clin Sports Med 2014 Apr;33(2):251-65. Epub 2014 Jan 10 doi: 10.1016/j.csm.2013.11.002. PMID: 24698041

Diagnosis

Chau MM, Klimstra MA, Wise KL, Ellermann JM, Tóth F, Carlson CS, Nelson BJ, Tompkins MA
J Bone Joint Surg Am 2021 Jun 16;103(12):1132-1151. doi: 10.2106/JBJS.20.01399. PMID: 34109940Free PMC Article
Aicale R, Tarantino D, Maffulli N
J Orthop Surg Res 2018 Dec 5;13(1):309. doi: 10.1186/s13018-018-1017-5. PMID: 30518382Free PMC Article
Gorbachova T, Melenevsky Y, Cohen M, Cerniglia BW
Radiographics 2018 Sep-Oct;38(5):1478-1495. Epub 2018 Aug 17 doi: 10.1148/rg.2018180044. PMID: 30118392
Accadbled F, Vial J, Sales de Gauzy J
Orthop Traumatol Surg Res 2018 Feb;104(1S):S97-S105. Epub 2017 Nov 29 doi: 10.1016/j.otsr.2017.02.016. PMID: 29197636
Edmonds EW, Shea KG
Clin Orthop Relat Res 2013 Apr;471(4):1105-6. doi: 10.1007/s11999-013-2837-6. PMID: 23404419Free PMC Article

Therapy

Bruns J, Habermann C, Werner M
Cartilage 2021 Dec;13(1_suppl):1380S-1401S. Epub 2021 Jan 9 doi: 10.1177/1947603520985182. PMID: 33423507Free PMC Article
Thiele S, Thiele R, Gerdesmeyer L
Int J Surg 2015 Dec;24(Pt B):191-4. Epub 2015 Oct 9 doi: 10.1016/j.ijsu.2015.09.035. PMID: 26455533
Polousky JD, Albright J
Clin Sports Med 2014 Apr;33(2):321-33. Epub 2014 Feb 24 doi: 10.1016/j.csm.2014.01.004. PMID: 24698047
Dodson CC, Nho SJ, Williams RJ 3rd, Altchek DW
J Am Acad Orthop Surg 2008 Oct;16(10):574-85. doi: 10.5435/00124635-200810000-00003. PMID: 18832601
Zizic TM
Curr Opin Rheumatol 1991 Jun;3(3):481-9. doi: 10.1097/00002281-199106000-00023. PMID: 1883703

Prognosis

Chau MM, Klimstra MA, Wise KL, Ellermann JM, Tóth F, Carlson CS, Nelson BJ, Tompkins MA
J Bone Joint Surg Am 2021 Jun 16;103(12):1132-1151. doi: 10.2106/JBJS.20.01399. PMID: 34109940Free PMC Article
Morris BJ, Kiser CJ, Elkousy HA, Bennett JM, Mehlhoff TL
Orthop Clin North Am 2020 Jan;51(1):97-108. Epub 2019 Sep 25 doi: 10.1016/j.ocl.2019.08.004. PMID: 31739884
Cain EL, Moroski NM
Sports Med Arthrosc Rev 2018 Dec;26(4):181-184. doi: 10.1097/JSA.0000000000000227. PMID: 30395064
Polousky JD
Sports Med Arthrosc Rev 2011 Mar;19(1):56-63. doi: 10.1097/JSA.0b013e31820b94b9. PMID: 21293239
Zizic TM
Curr Opin Rheumatol 1991 Jun;3(3):481-9. doi: 10.1097/00002281-199106000-00023. PMID: 1883703

Clinical prediction guides

Sayani J, Plotkin T, Burchette DT, Phadnis J
Am J Sports Med 2021 Dec;49(14):4018-4029. Epub 2021 Apr 22 doi: 10.1177/03635465211000763. PMID: 33886390
Uppstrom TJ, Gausden EB, Green DW
Curr Opin Pediatr 2016 Feb;28(1):60-7. doi: 10.1097/MOP.0000000000000308. PMID: 26709687
Zbojniewicz AM, Laor T
Clin Sports Med 2014 Apr;33(2):221-50. Epub 2014 Feb 16 doi: 10.1016/j.csm.2013.12.002. PMID: 24698040
Schulz JF, Chambers HG
Instr Course Lect 2013;62:455-67. PMID: 23395050
Zizic TM
Curr Opin Rheumatol 1991 Jun;3(3):481-9. doi: 10.1097/00002281-199106000-00023. PMID: 1883703

Recent systematic reviews

Matthews JR, Sonnier JH, Paul RW, Avendano JP, Saucedo ST, Freedman KB, Tjoumakaris FP
Phys Sportsmed 2023 Dec;51(6):497-505. Epub 2022 May 31 doi: 10.1080/00913847.2022.2082262. PMID: 35611658
Andriolo L, Solaro L, Altamura SA, Carey JL, Zaffagnini S, Filardo G
Cartilage 2022 Jul-Sep;13(3):19476035221121789. doi: 10.1177/19476035221121789. PMID: 36117427Free PMC Article
Sayani J, Plotkin T, Burchette DT, Phadnis J
Am J Sports Med 2021 Dec;49(14):4018-4029. Epub 2021 Apr 22 doi: 10.1177/03635465211000763. PMID: 33886390
Andriolo L, Crawford DC, Reale D, Zaffagnini S, Candrian C, Cavicchioli A, Filardo G
Cartilage 2020 Jul;11(3):273-290. Epub 2018 Jul 12 doi: 10.1177/1947603518786557. PMID: 29998741Free PMC Article
Zwingmann J, Südkamp NP, Schmal H, Niemeyer P
Arch Orthop Trauma Surg 2012 Sep;132(9):1241-50. Epub 2012 May 24 doi: 10.1007/s00402-012-1544-1. PMID: 22622794

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