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Descriptor English: Weill-Marchesani Syndrome
Descriptor Spanish: Síndrome de Weill-Marchesani
Descriptor Portuguese: Síndrome de Weill-Marchesani
Descriptor French: Syndrome de Weill-Marchesani
Entry term(s): Congenital Mesodermal Dysmorphodystrophies
Congenital Mesodermal Dysmorphodystrophy
Dysmorphodystrophies, Congenital Mesodermal
Dysmorphodystrophy, Congenital Mesodermal
GEMSS
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
Marchesani Syndrome
Marchesani Weill Syndrome
Marchesani-Weill Syndrome
Marchesani-Weill Syndromes
Mesodermal Dysmorphodystrophies, Congenital
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
Spherophakia Brachymorphia Syndromes
Spherophakia-Brachymorphia Syndrome
Syndrome, Spherophakia Brachymorphia
Syndromes, Spherophakia Brachymorphia
Weill Marchesani Syndrome
Weill Marchesani Syndrome, Autosomal Dominant
Weill Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Recessive
Tree number(s): C05.116.099.343.957
C11.270.921
C16.131.077.941
C16.320.290.842
C17.300.899
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2010
History Note: 2010
Related: Marfan Syndrome MeSH
DeCS ID: 53490
Unique ID: D056846
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2015/06/23
Weill-Marchesani Syndrome - Preferred
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.
Preferred term Weill-Marchesani Syndrome
Entry term(s) Congenital Mesodermal Dysmorphodystrophies
Congenital Mesodermal Dysmorphodystrophy
Dysmorphodystrophies, Congenital Mesodermal
Dysmorphodystrophy, Congenital Mesodermal
Marchesani Syndrome
Marchesani Weill Syndrome
Marchesani-Weill Syndrome
Marchesani-Weill Syndromes
Mesodermal Dysmorphodystrophies, Congenital
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
Spherophakia Brachymorphia Syndromes
Spherophakia-Brachymorphia Syndrome
Syndrome, Spherophakia Brachymorphia
Syndromes, Spherophakia Brachymorphia
Weill Marchesani Syndrome
Weill-Marchesani Syndrome, Autosomal Recessive - Narrower
Concept UI M0529440
Scope note The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations.
Preferred term Weill-Marchesani Syndrome, Autosomal Recessive
Entry term(s) Weill Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Dominant - Narrower
Concept UI M0529439
Scope note The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations.
Preferred term Weill-Marchesani Syndrome, Autosomal Dominant
Entry term(s) GEMSS
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
Weill Marchesani Syndrome, Autosomal Dominant



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