"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
|
| MeSH Number(s) |
C05.116.099.343.110 C05.116.099.708.017 C16.320.240.500
|
| 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
|
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.
View timeline visualization
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 2 | 0 | 2 |
| 1997 | 1 | 0 | 1 |
| 1999 | 0 | 1 | 1 |
| 2013 | 2 | 0 | 2 |
| 2014 | 2 | 0 | 2 |
| 2016 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 2 | 0 | 2 |
| 2020 | 3 | 0 | 3 |
| 2021 | 4 | 0 | 4 |
| 2022 | 3 | 0 | 3 |
| 2023 | 1 | 0 | 1 |
| 2024 | 3 | 0 | 3 |
Below are the most recent publications written about "Achondroplasia" by people in Profiles.
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Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population. Nat Commun. 2024 Dec 02; 15(1):10458.
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Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life. Genet Med. 2024 Dec; 26(12):101274.
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What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias? J Clin Endocrinol Metab. 2024 Apr 19; 109(5):e1410-e1414.
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Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Child Adolesc Health. 2024 01; 8(1):40-50.
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Juvenile toxicity study of PF-07256472/recifercept, a recombinant human soluble fibroblast growth factor receptor 3, in 2-3-month-old cynomolgus monkeys. Birth Defects Res. 2023 02 01; 115(3):348-356.
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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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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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A long-acting C-natriuretic peptide for achondroplasia. Proc Natl Acad Sci U S A. 2022 07 26; 119(30):e2201067119.
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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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Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Hum Mutat. 2021 08; 42(8):1005-1014.