- Concept UI
- M0529438
- 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.
- Terms
-
Weill-Marchesani Syndrome
Preferred Term
Term UI
T734979
Date02/12/2009
LexicalTag
EPO
ThesaurusID
-
Congenital Mesodermal Dysmorphodystrophy
Term UI
T842679
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Marchesani Syndrome
Term UI
T842680
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Marchesani-Weill Syndrome
Term UI
T748782
Date04/06/2009
LexicalTag
NON
ThesaurusID
NLM (2010)
-
Mesodermal Dysmorphodystrophy, Congenital
Term UI
T734982
Date02/12/2009
LexicalTag
NON
ThesaurusID
-
Spherophakia Brachymorphia Syndrome
Term UI
T734981
Date02/12/2009
LexicalTag
NON
ThesaurusID
-
Spherophakia-Brachymorphia Syndrome
Term UI
T842681
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Weill Marchesani Syndrome
Term UI
T734980
Date02/12/2009
LexicalTag
EPO
ThesaurusID
NLM (2010)