Weill-Marchesani syndrome

Common Name(s)

Weill-Marchesani syndrome

Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this condition have short stature; short fingers; and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. Occasionally patients with this condition have heart defects. In some families this condition is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTPBP2 genes. Weill-Marchesani syndrome can also have autosomal dominant inheritance, and a FBN1 gene mutation has been found in one family. People with this condition usually need regular eye exams and sometimes need eye surgery.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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" returned 12 free, full-text research articles on human participants. First 3 results:

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
 

Author(s): Alana Cecchi, Naomi Ogawa, Hugo R Martinez, Alicia Carlson, Yuxin Fan, Daniel J Penny, Dong-chuan Guo, Steven Eisenberg, Hazim Safi, Anthony Estrera, Richard A Lewis, Deborah Meyers, Dianna M Milewicz

Journal: Am. J. Med. Genet. A. 2013 Sep;161A(9):2305-10.

 

Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). Two forms of acromelic dysplasia, ...

Last Updated: 15 Aug 2013

Go To URL
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

Go To URL
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis.
 

Author(s): Sanjay K Mandal, Soumya S Mondal, Siddhartha Mani, Sumanta Chatterjee, Koushik Chatterjee, Raja Bhattacharya, Apurba B Pramanik

Journal: Indian J Med Sci. 2010 Mar;64(3):140-3.

 

We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.

Last Updated: 9 May 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Weill-Marchesani syndrome" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.