Osteochondrodysplasias

"Osteochondrodysplasias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Abnormal development of cartilage and bone.

Descriptor ID	D010009
MeSH Number(s)	C05.116.099.708 C16.320.728
Concept/Terms	Osteochondrodysplasias Osteochondrodysplasias Osteochondrodysplasia Melnick-Needles Syndrome Melnick-Needles Syndrome Melnick Needles Syndrome Osteodysplasty of Melnick and Needles Melnick-Needles Osteodysplasty Melnick Needles Osteodysplasty Osteodysplasty, Melnick-Needles Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia Myotonic Chondrodystrophy Myotonic Chondrodystrophy Chondrodystrophy, Myotonic Schwartz Jampel Aberfeld syndrome Schwartz-Jampel Syndrome, Type 1 Schwartz Jampel Syndrome, Type 1 Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities Spondylo-Epimetaphyseal Dysplasia With Myotonia Chondrodystrophic Myotonia Myotonia, Chondrodystrophic SJA Syndrome Schwartz-Jampel Syndrome Schwartz Jampel Syndrome Schwartz-Jampel-Aberfeld Syndrome Syndrome, Schwartz-Jampel-Aberfeld Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia Dysplasia, Spondyloepiphyseal Spondyloepiphyseal Dysplasia Tarda, X-Linked Spondyloepiphyseal Dysplasia Tarda, X-Linked Spondyloepiphyseal Dysplasia Tarda, X Linked X-Linked Spondyloepiphyseal Dysplasia Tarda X Linked Spondyloepiphyseal Dysplasia Tarda X-Linked SEDT SEDT, X-Linked X Linked SEDT SED Tarda X-Linked SED SED, X-Linked X Linked SED Spondyloepiphyseal Dysplasia, Late Late Spondyloepiphyseal Dysplasia Late-Onset Spondyloepiphyseal Dysplasia Late Onset Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia, Late-Onset Hyperostosis Corticalis Generalisata Hyperostosis Corticalis Generalisata Sost Sclerosing Bone Dysplasia Van Buchem Disease Sost-Related Sclerosing Bone Dysplasia Endosteal Hyperostosis, Autosomal Recessive Hyperphosphatasemia Tarda Dyschondroplasias Dyschondroplasias Dyschondroplasia

Below are MeSH descriptors whose meaning is more general than "Osteochondrodysplasias".

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Osteochondrodysplasias [C05.116.099.708]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Osteochondrodysplasias [C16.320.728]

Below are MeSH descriptors whose meaning is related to "Osteochondrodysplasias".

Below are MeSH descriptors whose meaning is more specific than "Osteochondrodysplasias".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Osteochondrodysplasias" by people in this website by year, and whether "Osteochondrodysplasias" was a major or minor topic of these publications.

Bar chart showing 78 publications over 26 distinct years, with a maximum of 8 publications in 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1997	2	0	2
1998	1	0	1
2000	1	1	2
2001	2	0	2
2002	3	0	3
2003	2	2	4
2004	0	1	1
2005	2	1	3
2006	0	2	2
2007	1	0	1
2008	2	0	2
2010	3	1	4
2011	0	1	1
2012	1	0	1
2013	2	0	2
2014	3	1	4
2015	4	0	4
2016	4	0	4
2017	8	0	8
2018	3	1	4
2019	4	0	4
2020	3	1	4
2021	5	2	7
2022	1	0	1
2023	3	1	4
2024	3	0	3

Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles.

Mazzotti A, Artioli E, Brizola E, Moroni A, Tremosini M, Di Cecco A, Gallone S, Faldini C, Sangiorgi L, Gnoli M. Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report. Genes (Basel). 2024 Nov 20; 15(11).

View in: PubMed
Stefko JM, Oommen A, Jones J, Arai L, Dicindio S, Theroux M. Severe Multilevel Tracheal Stenosis with Significant Twisting in a Patient with Spondylometaphyseal Dysplasia: A Case Report. A A Pract. 2024 Mar 01; 18(3):e01759.

View in: PubMed
Ago Y, Rintz E, Musini KS, Ma Z, Tomatsu S. Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy. Int J Mol Sci. 2024 Jan 17; 25(2).

View in: PubMed
Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM, Bober MB, Boycott KM, Murshed M. Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia. Nat Commun. 2023 11 03; 14(1):7054.

View in: PubMed
Farr S, Zlotolow DA, Bachy M, Peymani A, H?lsemann W, Winge MI. State of the art review: The pathogenesis and management of Madelung deformity. J Hand Surg Eur Vol. 2023 12; 48(11):1116-1125.

View in: PubMed
Sirohi N, Duker AL, Bober MB, DeFelice ML. Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III. J Clin Immunol. 2023 07; 43(5):895-897.

View in: PubMed
Bachy M, Tadley M, Kozin SH, Trehan SK, Daluiski A, Zlotolow DA. Early Results of 3-Dimensional Planning and Customized Cutting Guides for the Treatment of Severe Madelung Deformity. J Hand Surg Am. 2024 10; 49(10):1037.e1-1037.e9.

View in: PubMed
Al Omari A, Al-Qarqaz W, Khresat M, Sataloff RT. Tracheobronchopathia osteochondroplastica in the setting of COVID-19. Ear Nose Throat J. 2024 Jun; 103(1_suppl):98S-101S.

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Merrill RK, Ishmael TG, Samdani AF, Hwang SW, Pahys JM. Severe Cervical Kyphosis and Spondyloptosis with Myelopathy in Larsen Syndrome: A Report of 2 Cases. JBJS Case Connect. 2021 Aug 04; 11(3).

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Soares RR, Stem MS, Yonekawa Y. Exudative Retinal Telangiectasia Associated With Leri-Weill Dyschondrosteosis. JAMA Ophthalmol. 2021 08 01; 139(8):914-915.

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