Weill-Marchesani Syndrome
"Weill-Marchesani Syndrome" 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.
Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
Descriptor ID |
D056846
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MeSH Number(s) |
C05.116.099.343.957 C11.270.921 C16.131.077.941 C16.320.290.842 C17.300.899
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Concept/Terms |
Weill-Marchesani Syndrome- Weill-Marchesani Syndrome
- Marchesani Syndrome
- Weill Marchesani Syndrome
- Mesodermal Dysmorphodystrophy, Congenital
- Congenital Mesodermal Dysmorphodystrophies
- Dysmorphodystrophies, Congenital Mesodermal
- Dysmorphodystrophy, Congenital Mesodermal
- Mesodermal Dysmorphodystrophies, Congenital
- Spherophakia Brachymorphia Syndrome
- Spherophakia Brachymorphia Syndromes
- Syndrome, Spherophakia Brachymorphia
- Syndromes, Spherophakia Brachymorphia
- Spherophakia-Brachymorphia Syndrome
- Congenital Mesodermal Dysmorphodystrophy
- Marchesani-Weill Syndrome
- Marchesani Weill Syndrome
- Marchesani-Weill Syndromes
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Below are MeSH descriptors whose meaning is more general than "Weill-Marchesani Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Weill-Marchesani Syndrome".
This graph shows the total number of publications written about "Weill-Marchesani Syndrome" by people in this website by year, and whether "Weill-Marchesani Syndrome" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2013 | 1 | 0 | 1 |
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Below are the most recent publications written about "Weill-Marchesani Syndrome" by people in Profiles.
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Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V. Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3130-2.
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People ![Expand Description](https://profiles.ucdenver.edu/Framework/Images/info.png) People who have written about this concept. _
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