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

Lymphedema-Distichiasis Syndrome


Synonyms of Lymphedema-Distichiasis Syndrome
  • Lymphedema with Distichiasis

Disorder Subdivisions



    General Discussion
    Lymphedema-distichiasis syndrome is a rare genetic multisystem disorder characterized by swelling of the legs because of fluid accumulation and the development of extra eyelashes (distichiasis). Distichiasis may range from a few extra lashes to a full set of extra eyelashes. Swelling most often affects both legs (bilateral) and usually occurs around puberty. Additional anomalies sometimes associated with this disorder include cleft palate, droopy eyelids (ptosis), abnormalities of the curved transparent outer layer of fibrous tissue covering the eyeball (cornea), cysts on the spinal cord, an abnormal sensitivity to light (photophobia), and cardiac (heart) defects. Lymphedema-distichiasis syndrome is caused by mutations of the FOXC2 gene and is inherited as an autosomal dominant trait.

    Organizations related to Lymphedema-Distichiasis Syndrome
    • Lymphatic Research Foundation
      100 Forest Avenue
      East Hills NY 11548
      Phone #: 516-625-9675
      800 #: --
      e-mail: lrf@lymphaticresearch.org
      Home page: http://www.lymphaticresearch.org
    • Lymphovenous Canada
      8 Silver Ave
      Ontario Intl M6R 1X8
      Phone #: 416--53-3-2428
      800 #: N/A
      e-mail: info@lymphovenous-canada.ca
      Home page: http://www.lymphovenous-canada.ca
    • 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 Heart, Lung and Blood Institute Information Center
      P.O. Box 30105
      Bethesda MD 20824-0105
      Phone #: 301-592-8573
      800 #: --
      e-mail: nhlbiinfo@rover.nhlbi.nih.gov
      Home page: N/A
    • National Lipedema Association, Inc.
      27 Freeman Street
      Arlington MA 02474
      Phone #: 781-734-0367
      800 #: 800-809-2503
      e-mail: info@lipedema.org
      Home page: http://www.lipedema.org
    • National Lymphatic and Venous Diseases Foundation, Inc.
      70 Heritage Ave
      Portsmouth NH 03801
      Phone #: 603-334-8600
      800 #: 800-301-2103
      e-mail: N/A
      Home page: N/A
    • National Lymphedema Network
      Latham Square Building
      Oakland CA 94612-2138
      Phone #: 510-208-3200
      800 #: 800-541-3259
      e-mail: nln@lymphnet.org
      Home page: http://www.lymphnet.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