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