Turner Syndrome

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

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• 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

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• None

General Discussion

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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

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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

14450 TC Jester

Suite 260

Houston, TX 77014

Tel: (832)249-9988

Fax: (832)249-9987

Tel: (800)365-9944

Email: tssus@turner-syndrome-us.org

Internet: http://www.turner-syndrome-us.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, Inc.

930 Woodcock Rd

Suite 225

Orlando, FL 32803

USA

Tel: 4078950802

Fax: 4078950824

Email: staff@birthdefects.org

Internet: http://www.birthdefects.org



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

For a Complete Report

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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:   6/25/2004

Copyright   1986, 1987, 1988, 1989, 1990, 1991, 1992, 1994, 1995, 1996, 1997, 1999, 2004 National Organization for Rare Disorders, Inc.