Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

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)


This graph shows the total number of publications written about "Achondroplasia" by people in Harvard Catalyst Profiles by year, and whether "Achondroplasia" was a major or minor topic of these publication.
Bar chart showing 23 publications over 14 distinct years, with a maximum of 3 publications in 1998 and 2008
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.