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Other Names for this Disease
- Mesodermal dysmorphodystrophy congenital
- Spherophakia-brachymorphia syndrome
- WM Syndrome
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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. 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
Last updated: 10/3/2013
- 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.
- 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.
- 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.
In Depth Information
- 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.
- 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.