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 55 publications over 20 distinct years, with a maximum of 7 publications in 2021

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

Year	Major Topic	Minor Topic	Total
2001	1	0	1
2002	2	0	2
2003	2	2	4
2005	2	1	3
2006	0	2	2
2007	1	0	1
2008	3	0	3
2010	2	0	2
2011	0	1	1
2012	1	0	1
2013	2	0	2
2014	2	1	3
2015	2	0	2
2016	4	0	4
2017	6	0	6
2018	2	1	3
2019	3	0	3
2020	3	1	4
2021	5	2	7
2023	1	0	1

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

Gourgas O, Lemire G, Eaton AL, 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 Nov 03; 14(1):7054.

View in: PubMed
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 08 04; 11(3).

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

View in: PubMed
Duker AL, Kinderman D, Jordan C, Niiler T, Baker-Smith CM, Thompson L, Parry DA, Carroll RS, Bober MB. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet J Rare Dis. 2021 05 20; 16(1):231.

View in: PubMed
Hoover-Fong JE, Alade AY, Hashmi SS, Hecht JT, Legare JM, Little ME, Liu C, McGready J, Modaff P, Pauli RM, Rodriguez-Buritica DF, Schulze KJ, Serna ME, Smid CJ, Bober MB. Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genet Med. 2021 08; 23(8):1498-1505.

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Legare JM, Pauli RM, Hecht JT, Bober MB, Smid CJ, Modaff P, Little ME, Rodriguez-Buritica DF, Serna ME, Alade AY, Liu C, Hoover-Fong JE, Hashmi SS. CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus. Am J Med Genet A. 2021 04; 185(4):1168-1174.

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Farr S, Mart?nez-Alvarez S, Little KJ, Henstenburg J, Ristl R, Stauffer A, Soldado F, Zlotolow DA. The prevalence of Vickers' ligament in Madelung's deformity: a retrospective multicentre study of 75 surgical cases. J Hand Surg Eur Vol. 2021 May; 46(4):384-390.

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Savarirayan R, Tunkel DE, Sterni LM, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, White KK. Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet J Rare Dis. 2021 01 14; 16(1):31.

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Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Growth in individuals with Saul-Wilson syndrome. Am J Med Genet A. 2020 09; 182(9):2110-2116.

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White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, Savarirayan R. Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet J Rare Dis. 2020 06 24; 15(1):161.

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