 Achondroplasia
"Achondroplasia" 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.
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
| Descriptor ID |
D000130
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| MeSH Number(s) |
C05.116.099.343.110 C05.116.099.708.017 C16.320.240.500
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| Concept/Terms |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans- Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
- Skeleton-Skin-Brain Syndrome
- Skeleton Skin Brain Syndrome
- Skeleton-Skin-Brain Syndromes
- Syndrome, Skeleton-Skin-Brain
- Syndromes, Skeleton-Skin-Brain
- Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
- SADDAN
- SADDANs
- SADDAN Dysplasia
- Dysplasia, SADDAN
- Dysplasias, SADDAN
- SADDAN Dysplasias
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Below are MeSH descriptors whose meaning is more general than "Achondroplasia".
Below are MeSH descriptors whose meaning is more specific than "Achondroplasia".
This graph shows the total number of publications written about "Achondroplasia" by people in this website by year, and whether "Achondroplasia" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 2 | 0 | 2 | | 2016 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2022 | 3 | 0 | 3 | | 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Achondroplasia" by people in Profiles.
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Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice. Adv Ther. 2024 01; 41(1):198-214.
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Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J. Growth parameters in children with achondroplasia: A?7-year, prospective, multinational, observational study. Genet Med. 2022 12; 24(12):2444-2452.
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Broder MS, Chen E, Yan JT, Chang E, Tarbox MH, Larkin AA, White KK. National burden of achondroplasia: an analysis of the National Inpatient and Nationwide Ambulatory Surgery Samples. J Comp Eff Res. 2022 10; 11(15):1135-1146.
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Savarirayan R, Baratela W, Butt T, Cormier-Daire V, Irving M, Miller BS, Mohnike K, Ozono K, Rosenfeld R, Selicorni A, Thompson D, White KK, Wright M, Fredwall SO. Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study. Orphanet J Rare Dis. 2022 06 13; 17(1):224.
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Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-Gonz?lez F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JRS. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genet Med. 2021 12; 23(12):2443-2447.
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Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-Gonz?lez F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020 09 05; 396(10252):684-692.
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White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M. Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?". Am J Med Genet A. 2016 Apr; 170A(4):1101-3.
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White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A. 2016 Jan; 170A(1):42-51.
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White KK, Parnell SE, Kifle Y, Blackledge M, Bompadre V. Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? Am J Med Genet A. 2016 Jan; 170A(1):32-41.
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Stokes DC, Wohl ME, Wise RA, Pyeritz RE, Fairclough DL. The lungs and airways in achondroplasia. Do little people have little lungs? Chest. 1990 Jul; 98(1):145-52.
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