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
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)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Turner Syndrome Society of the United States
10960 Millridge North Drive
#214A
Houston, TX 77070
Tel: (281)516-7272
Fax: (281)516-7280
Tel: (800)365-9944
Email: tssus@turnersyndrome.org
Internet: http://www.turnersyndrome.org

Turner's Syndrome Society
21 Blackthorn Avenue
Toronto
Ontario, Intl M6N 3H4
Canada
Tel: 4167812086
Fax: 4167817245
Tel: 8004656744
Email: tssincan@web.net
Internet: http:// www.turnersyndrome.ca

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nih.gov/hichd/

Birth Defect Research for Children
930 Woodcock Rd
Suite 225
Orlando, FL 32803
USA
Tel: 4078950802
Fax: 4078950824
Email: staff@birthdefects.org
Internet: http://www.birthdefects.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Turner Syndrome Support Society (UK)
12 Irving Quandrant
Hardgate, Clydebank, G81 6AZ
Scottland, UK
Tel: 44 01389-380385
Fax: 44 01389-380384
Email: Turner.Syndrome@tss.org.uk
Internet: http://www.tss.org.uk

New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee, WI 53202
USA
Tel: 4142990124
Fax: 4143471977
Email: horizons@new-horizons.org
Internet: http://www.new-horizons.org

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

National Foundation for Celiac Awareness
P.O. Box 544 or 224 South Maple Street
Ambler, PA 19002
Tel: (215)325-1306
Fax: (215)283-0859
Email: info@celiaccentral.org
Internet: http://www.CeliacCentral.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
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