"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Achondroplasia" by people in Profiles.
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Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. Am J Med Genet A. 2018 07; 176(7):1675-1679.
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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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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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Helping parents of children with monogenetic disorders understand developmental trajectories: lessons from achondroplasia. Dev Med Child Neurol. 2012 Jun; 54(6):488-9.
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Personalized medicine and the importance of measuring functioning and participation over time: lessons from achondroplasia. Dev Med Child Neurol. 2011 Oct; 53(10):882-3.
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History of the Kleeblattschädel deformity: origin of concepts and evolution of management in the past 50 years. Neurosurg Focus. 2010 Dec; 29(6):E7.
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Functional health status of adults with achondroplasia. Am J Med Genet. 1998 Jun 16; 78(1):30-5.
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New method of limb deformities correction in children. Bull N Y Acad Med. 1992 Nov; 68(4):447-69.