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