Weill-Marchesani syndrome 1

Common Name(s)

Weill-Marchesani syndrome 1

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities ({3:Faivre et al., 2002}). Genetic Heterogeneity of Weill-Marchesani Syndrome A phenotypically similar, autosomal dominant form of WMS (WMS2; {608328}) is caused by mutation in the FBN1 gene on chromosome 15q21. Autosomal recessive WMS3 ({614819}) is caused by mutation in the LTBP2 gene ({602091}) on chromosome 14q24. A WMS-like syndrome ({613195}), in which affected individuals exhibit key features of WMS but do not display brachydactyly or decreased joint flexibility, is caused by mutation in the ADAMTS17 gene ({607511}) on chromosome 15q24.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Weill-Marchesani syndrome 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Weill-Marchesani syndrome 1" returned 2 free, full-text research articles on human participants. First 3 results:

Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
 

Author(s): Stuart A Cain, Amanda McGovern, Andrew K Baldwin, Clair Baldock, Cay M Kielty

Journal: PLoS ONE. 2012 ;7(11):e48634.

 

The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature. This is in contrast to mutations within a heparin-binding ...

Last Updated: 7 Nov 2012

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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
 

Author(s): L Faivre, R J Gorlin, M K Wirtz, M Godfrey, N Dagoneau, J R Samples, M Le Merrer, G Collod-Beroud, C Boileau, A Munnich, V Cormier-Daire

Journal: J. Med. Genet.. 2003 Jan;40(1):34-6.

 

Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal ...

Last Updated: 14 Jan 2003

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Reviews from the PubMed Database

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The terms "Weill-Marchesani syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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