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Genetic and Rare Diseases Information Center (GARD)

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Weill-Marchesani syndrome


Other Names for this Disease

  • Mesodermal dysmorphodystrophy congenital
  • Spherophakia-brachymorphia syndrome
  • WM Syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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. [1]
Last updated: 10/3/2013

References

  1. Ekaterini Tsilou and Ian M MacDonald. Weill-Marchesani Syndrome. GeneReviews. 02/14/2013; http://www.ncbi.nlm.nih.gov/books/NBK1114/. Accessed 10/3/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Weill-Marchesani syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    The Online Mendelian Inheritance in Man (OMIM)
    The Online Mendelian Inheritance in Man (OMIM)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Weill-Marchesani syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Mesodermal dysmorphodystrophy congenital
  • Spherophakia-brachymorphia syndrome
  • WM Syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.