Weill Marchesani syndrome

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • WMS
  • congenital mesodermal dysmorphodystrophy
  • mesodermal dysmorphodystrophy, congenital
  • spherophakia-brachymorphia syndrome
  • WM syndrome

Disorder Subdivisions

  • None

General Discussion

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.

Resources

Human Growth Foundation
997 Glen Cove Avenue
Suite 5
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Internet: http://www.hgfound.org/

MAGIC Foundation
6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: mary@magicfoundation.org
Internet: http://www.magicfoundation.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Lighthouse International
111 E 59th St
New York, NY 10022-1202
Tel: (800)829-0500
Email: info@lighthouse.org
Internet: http://www.lighthouse.org

Little People of America, Inc.
250 El Camino Real Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Internet: http://www.lpaonline.org/

Glaucoma Research Foundation
251 Post Street
Suite 600
San Francisco, CA 94108
Tel: (415)986-3162
Fax: (415)986-3763
Tel: (800)826-6693
Email: info@glaucoma.org
Internet: http://www.glaucoma.org

NIH/National Eye Institute
31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Tel: (202)362-9599
Fax: (202)966-8553
Tel: (800)778-7171
Email: chdct@pxe.org
Internet: http://www.chdct2.org/

International Glaucoma Association
Woodcote House
15A Highpoint Business Village
Henwood
Ashford
Kent, TN24 8DH
United Kingdom
Tel: 00441233648164
Fax: 01233648179
Email: info@iga.org.uk
Internet: http://www.iga.org.uk

Children's Glaucoma Foundation
2 Longfellow Place
Suite 201
Boston, MA 02114
Tel: (617)277-3011
Fax: (617)227-9538
Email: info@childrensglaucoma.com
Internet: http://www.childrensglaucomafoundation.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/19/2012
Copyright  1992, 2000, 2003, 2009, 2012 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.

First Nurse

First Nurse

Call First Nurse 24 Hours a Day for free health care advice, resources and referrals!

Ames: 515-239-6877
In Iowa: 800-524-6877 

Search health information online in our Mulimedia Health Library.

Symptom Checker

Use our interactive symptom checker to evaluate your symptoms and determine appropriate action or treatment.

Symptom Checker

Patient Privacy | Net Learning for Employees | MGMC PACS for Physicians
Emergency Preparedness

1111 Duff Avenue Ames, IA 50010 - 515-239-2011 - yourhealth.mgmc@mgmc.com

©2014 Mary Greeley Medical Center - All rights reserved.