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Achondroplasia MeSH Descriptor Data 2021


MeSH Heading
Achondroplasia
Tree Number(s)
C05.116.099.343.110
C05.116.099.708.017
C16.320.240.500
Unique ID
D000130
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000130
Scope Note
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)
Entry Term(s)
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
SADDAN
SADDAN Dysplasia
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
Skeleton-Skin-Brain Syndrome
NLM Classification #
WE 250
See Also
Receptor, Fibroblast Growth Factor, Type 3
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Achondroplasia Preferred
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Related
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