Weill Marchesani Syndrome / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Weill Marchesani Syndrome

Synonyms of Weill Marchesani Syndrome

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

Disorder Subdivisions

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.

Organizations related to Weill Marchesani Syndrome

Children's Glaucoma Foundation
2 Longfellow Place
Boston MA 02114
Phone #: 617-227-3011
800 #: --
e-mail: childglau@Worldnet.ATT.net
Home page: http://www.childrensglaucoma.com
Glaucoma Research Foundation
490 Post Street
San Francisco CA 94102
Phone #: 415-986-3162
800 #: 800-826-6693
e-mail: info@glaucoma.org
Home page: http://www.glaucoma.org
Human Growth Foundation
997 Glen Cove Avenue
Glen Head NY 11545
Phone #: 516-671-4041
800 #: 800-451-6434
e-mail: hgf1@hgfound.org
Home page: http://www.hgfound.org/
International Glaucoma Association
Woodcote House
Kent Intl TN24 8DH
Phone #: 012-33 -64 81 70
800 #: --
e-mail: info@iga.org.uk
Home page: http://www.iga.org.uk
Little People of America, Inc.
250 El Camino Real
Tustin CA 92780
Phone #: 714-368-3689
800 #: 888-572-2001
e-mail: info@lpaonline.org
Home page: http://www.lpaonline.org
Little People's Research Fund, Inc.
616 Old Edmondson Avenue
Catonsville MD 21228-3305
Phone #: 410-747-1100
800 #: 800-232-5773
e-mail: lprf@lprf.org
Home page: http://www.lprf.org
MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: mary@magicfoundation.org
Home page: http://www.magicfoundation.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
NIH/National Eye Institute
Building 31 Rm 6A32
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: 2020@nei.nih.gov
Home page: http://www.nei.nih.gov/
National Association for Visually Handicapped
22 West 21st Street
New York NY 10010
Phone #: 212-889-3141
800 #: --
e-mail: staff@navh.org
Home page: http://www.navh.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html