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Weill-Marchesani Syndrome MeSH Descriptor Data 2022


MeSH Heading
Weill-Marchesani Syndrome
Tree Number(s)
C05.116.099.343.957
C11.270.921
C16.131.077.941
C16.320.290.842
C17.300.899
Unique ID
D056846
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056846
Scope Note
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.
Entry Term(s)
Congenital Mesodermal Dysmorphodystrophy
GEMSS
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
Marchesani Syndrome
Marchesani-Weill Syndrome
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
Spherophakia-Brachymorphia Syndrome
Weill Marchesani Syndrome
Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Recessive
See Also
Marfan Syndrome
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2015/06/23
Weill-Marchesani Syndrome Preferred
Weill-Marchesani Syndrome, Autosomal Recessive Narrower
Weill-Marchesani Syndrome, Autosomal Dominant Narrower
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