Weill Marchesani syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Weill Marchesani syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- congenital mesodermal dysmorphodystrophy
- mesodermal dysmorphodystrophy, congenital
- spherophakia-brachymorphia syndrome
- WM syndrome
Weill Marchesani syndrome is a rare genetic disorder of connective tissue characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head (brachycephaly) and joint stiffness. The eye (ocular) abnormalities can include small round lenses (microspherophakia), abnormal position of the lens (ectopia lentis) nearsightedness (myopia) resulting from the abnormal shape of the eye and lens and eye disease that damages the optic nerve (glaucoma) that can lead to blindness. Heart defects are present in some affected individuals. Weill Marchesani syndrome follows autosomal recessive or autosomal dominant inheritance.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
6645 W. North Avenue
Oak Park, IL 60302
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
111 E 59th St
New York, NY 10022-1202
Little People of America, Inc.
250 El Camino Real Suite 201
Tustin, CA 92780
Glaucoma Research Foundation
251 Post Street
San Francisco, CA 94108
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
International Glaucoma Association
15A Highpoint Business Village
Kent, TN24 8DH
Children's Glaucoma Foundation
2 Longfellow Place
Boston, MA 02114
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 3/19/2012
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