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Weill-Marchesani syndrome
Other Names for this Disease
- Mesodermal dysmorphodystrophy congenital
- Spherophakia-brachymorphia syndrome
- WM Syndrome
- WMS
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Overview
Weill-Marchesani syndrome is an inherited connective tissue disorder characterized by both skeletal and ocular (eye) manifestations. Skeletal manifestations include short stature; brachdactyly; and limited joint mobility, especially of the hands. The primary ocular manifestation is microspherophakia (small and relatively spherical crystalline lens with increased antero-posterior thickness), with occasional ectopia of the lenses, severe myopia, and glaucoma. Some patients also have cardiac involvement.[1][2] Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome have been identified. These forms cannot be distinguished by clinical findings alone.[3]
References
- Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Munnich, Laurence Legeai-Mallet, and Valérie Cormier-Daire. Am J Hum Genet. November 2004. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=15368195. Accessed June 9, 2008.
- Charles J Anderson and Nicole J Anderson. Weill-Marchesani Syndrome. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003.
- Ekaterini Tsilou and Ian M MacDonald. Weill-Marchesani Syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=weill-ms. Accessed June 9, 2008.
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On this page
General Information
- Genetics Home Reference (GHR) contains information on Weill-Marchesani syndrome. Click on the link to go to GHR and review the information.
- The National Eye Institute (NEI) provides more information on this topic. You can reach them by calling 301-496-5248 or by E-mail at 2020@nei.nih.gov
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) offers printed materials on this topic. We recommend calling toll-free at 877-226-4267 to request a copy of this information.
- 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.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Weill-Marchesani syndrome. Click on the links below to go to the OMIM pages on this condition.
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277600
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608328
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Weill-Marchesani syndrome. Click on the link to go to OMIM and review these resources.