Diseases & Conditions


Turner Syndrome

Synonyms of Turner Syndrome
  • 45, X Syndrome
  • Bonnevie-Ulrich Syndrome
  • Chromosome X, Monosomy X
  • Gonadal Dysgenesis (45,X)
  • Gonadal Dysgenesis (XO)
  • Monosomy X
  • Morgagni-Turner-Albright Syndrome
  • Ovarian Dwarfism, Turner Type
  • Ovary Aplasia, Turner Type
  • Pterygolymphangiectasia
  • Schereshevkii-Turner Syndrome
  • Turner-Varny Syndrome
  • XO Syndrome

Disorder Subdivisions

    General Discussion
    Turner syndrome is a rare chromosomal disorder of females characterized by short stature and the lack of sexual development at puberty. Other physical features may include a short neck with a webbed appearance, heart defects, kidney abnormalities, and/or various other malformations. Among affected females, there is also a heightened incidence of osteoporosis, type II diabetes, and hypothyroidism. There appears to be great variability in the degree to which girls with Turner syndrome are affected by any of its manifestations.

    Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the division (meiosis) of sex cells.

    Organizations related to Turner Syndrome
    • Birth Defect Research for Children
      930 Woodcock Rd
      Orlando FL 32803
      Phone #: 407-895-0802
      800 #: --
      e-mail: staff@birthdefects.org
      Home page: http://www.birthdefects.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/
    • Let Them Hear Foundation
      1900 University Ave #101
      East Palo Alto CA 94303
      Phone #: 650-462-3143
      800 #: 877-735-2929
      e-mail: info@letthemhear.org
      Home page: http://www.letthemhear.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/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • 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 Institute of Child Health and Human Development
      31 Center Dr
      Bethesda MD 20892
      Phone #: 301-496-5133
      800 #: --
      e-mail: N/A
      Home page: http://www.nichd.nih.gov/
    • National Foundation for Celiac Awareness
      P.O. Box 544 or 224 South Maple Street
      Ambler PA 19002
      Phone #: 215-325-1306
      800 #: N/A
      e-mail: info@celiaccentral.org
      Home page: http://www.CeliacCentral.org
    • New Horizons Un-Limited, Inc.
      811 East Wisconsin Ave
      Milwaukee WI 53202
      Phone #: 414-299-0124
      800 #: N/A
      e-mail: horizons@new-horizons.org
      Home page: http://www.new-horizons.org
    • Turner Syndrome Society of the United States
      10960 Millridge North Drive
      Houston TX 77070
      Phone #: 281-516-7272
      800 #: 800-365-9944
      e-mail: tssus@turnersyndrome.org
      Home page: http://www.turnersyndrome.org
    • Turner Syndrome Support Society (UK)
      12 Irving Quandrant
      Hardgate, Clydebank None G81 6AZ
      Phone #: 44 -013-89-380385
      800 #: N/A
      e-mail: Turner.Syndrome@tss.org.uk
      Home page: http://www.tss.org.uk
    • Turner's Syndrome Society
      21 Blackthorn Avenue
      Ontario Intl M6N 3H4
      Phone #: 416-781-2086
      800 #: 800-465-6744
      e-mail: tssincan@web.net
      Home page: http://

    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