Turner Syndrome

Search Knowledgebase

Topic Contents

Turner Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Turner 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

  • 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

  • None

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.

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/

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

Turner Syndrome Society of the United States
11250 West Road, Suite G
Houston, TX 77065
Tel: (832)912-6006
Fax: (832)912-6446
Tel: (800)365-9944
Email: tssus@turnersyndrome.org
Internet: http://www.turnersyndrome.org

Turner's Syndrome Society of Canada
30 Cleary Avenue
Ottawa
Ontario, Intl K2A 4A1
Canada
Tel: (613) 321-2267
Fax: (613) 321-2268
Tel: 800-465-6744
Email: info@turnersyndrome.ca
Internet: http://www.turnersyndrome.ca/index.html

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943
TDD: (888)320-6942
Email: NICHDInformationResourceCenter@mail.nih.gov
Internet: http://www.nichd.nih.gov/

Birth Defect Research for Children, Inc.
800 Celebration Ave, Suite 225
Orlando, FL 34747
USA
Tel: (407)566-8304
Fax: (407)895-0824
Email: staff@birthdefects.org
Internet: http://www.birthdefects.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Turner Syndrome Support Society (UK)
13 Simpson Court
11 South Ave
Clydebank Business Park
Clydebank, G81 2NR
Scottland
Tel: 0141 952 8006
Fax: 0141 952 8025
Tel: 0845 2307520
Email: Turner.Syndrome@tss.org.uk
Internet: http://www.tss.org.uk

New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
USA
Tel: (414)299-0124
Fax: (414)347-1977
Email: horizons@new-horizons.org
Internet: http://www.new-horizons.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
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Internet: http://rarediseases.info.nih.gov/GARD

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Email: Rachelmancuso09@comcast.net
Internet: http://www.cleftsmile.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

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:  2/4/2008
Copyright  1986, 1987, 1988, 1989, 1990, 1991, 1992, 1994, 1995, 1996, 1997, 1999, 2004, 2008 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.