Turner syndrome

Genetic and Rare Diseases Information Center (GARD)

Ullrich-Turner syndrome
Bonnevie-Ulrich syndrome
45, X Syndrome
Chromosome X Monosomy X
Gonadal Dysgenesis (45,X)
Schereshevkii Turner Syndrome
Turner Varny Syndrome

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Turner syndrome
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Turner syndrome is a chromosomal disorder that occurs in females and is caused by the complete or partial absence of an X chromosome. Turner syndrome may cause shortened stature, infertility, extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects, and kidney problems.^[1] Symptoms differ from person to person. Many of the symptoms of Turner syndrome can be improved or corrected with treatment.

References

Turner syndrome. Genetic Home Reference. September 2005 Available at: http://ghr.nlm.nih.gov/condition=turnersyndrome. Accessed April 7, 2008.

Questions & Answers (Found 3 Questions)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

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For more information about Turner syndrome click on the boxes below:

More Detailed Information	NLM Gateway	Medical Products	Services	Scientific Conferences	Support Groups	Clinical Trials & Research

General \| Selected Full-Text Journal Articles
More Detailed Information (Found 10 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates General The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic. Genetics Home Reference (GHR) contains a condition summary on Turner syndrome. Click on the link to go to GHR and review this summary. MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information. The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic. The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic. Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic. PubMed is a searchable database of medical literature and lists journal articles that discuss Turner syndrome. Click on the link to view a sample search on this topic. Selected Full-Text Journal Articles Nabhan, et al. Monozygotic Twins With Turner Syndrome Develop Slipped Capital Femoral Epiphysis on Growth Hormone Therapy. Pediatrics 2006 0:peds.2006-0955. The National Institute of Child Health and Human Development Turner syndrome Web site lists a number of Turner syndrome publications. Click on The National Institute of Child Health and Human Development to view this list. Frías JL, Davenport ML. Health Supervision for Children With Turner Syndrome. Pediatrics. 2003;111(3):692-702.

General | Selected Full-Text Journal Articles

More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

General
- The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic.
- Genetics Home Reference (GHR) contains a condition summary on Turner syndrome. Click on the link to go to GHR and review this summary.
- MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Turner syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Nabhan, et al. Monozygotic Twins With Turner Syndrome Develop Slipped Capital Femoral Epiphysis on Growth Hormone Therapy. Pediatrics 2006 0:peds.2006-0955.
- The National Institute of Child Health and Human Development Turner syndrome Web site lists a number of Turner syndrome publications. Click on The National Institute of Child Health and Human Development to view this list.
- Frías JL, Davenport ML. Health Supervision for Children With Turner Syndrome. Pediatrics. 2003;111(3):692-702.


NLM Gateway (Found 1 resource) A tool to search across multiple resources offered on the National Library of Medicine's Website NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

- NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

Medical Products (Found 2 resources)

U.S. Food and Drug Administration

The Office of Orphan Products Development (OOPD)

The medications listed in the table below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search all FDA approved drugs, visit Drugs@FDA You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name	Trade Name (Manufacturer Name)	Indication	Resources
Somatropin	Humatrope (Eli Lilly and Company)	Treatment of short stature associated with Turner syndrome in patients whose epiphyses are not closed.
Somatropin (r-DNA) for injection	Nutropin® (Genentech, Inc.)	Treatment of children with growth failure associated with chronic renal insufficency.


Services (Found 2 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories Ask-an-Expert The Turner Syndrome Society of the United States has an Ask the Expert feature available for registered users. Click on the link above and select "Ask the Expert" from the "Support Resources" drop down window. The Turner Syndrome Society of the United States has a Turner syndrome Online Discussion Board available to registered users. Click on online discussion board to learn more.

Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

Ask-an-Expert
- The Turner Syndrome Society of the United States has an Ask the Expert feature available for registered users. Click on the link above and select "Ask the Expert" from the "Support Resources" drop down window.
- The Turner Syndrome Society of the United States has a Turner syndrome Online Discussion Board available to registered users. Click on online discussion board to learn more.


Scientific Conferences (Found 1 resource) Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health Past Conferences Turner Syndrome: Heart of the Matter, November 2, 2007 - November 3, 2007 Description: There is insufficient published data on aortic disease in Turner syndrome (TS) to allow informed decisions on diagnosis and treatment. The NICHD study with systematic data on 300 subjects is by far the largest source. There are, however, excellent clinicians in academia and practice who have relevant experience that may contribute, collectively, to building an essential database. The goal of this conference is to bring together the world experts who have conceptualized the issues and have relevant research data with distinguished academicians and leading practitioners who have vast past and current clinical experience.

Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

Past Conferences
- Turner Syndrome: Heart of the Matter, November 2, 2007 - November 3, 2007
  Description: There is insufficient published data on aortic disease in Turner syndrome (TS) to allow informed decisions on diagnosis and treatment. The NICHD study with systematic data on 300 subjects is by far the largest source. There are, however, excellent clinicians in academia and practice who have relevant experience that may contribute, collectively, to building an essential database. The goal of this conference is to bring together the world experts who have conceptualized the issues and have relevant research data with distinguished academicians and leading practitioners who have vast past and current clinical experience.

Umbrella Organizations \| Disease-Specific Organizations \| Live Chat/E-mail Lists \| Parent Matching Organizations
Support Groups (Found 8 resources) Groups providing a wide range of services, supportive resources, and information Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Disease-Specific Organizations The MAGIC Foundation 6645 West North Avenue Oak Park, IL 60302 Toll-Free: 800-362-4423 Phone: 708-383-0808 Fax: 708-383-0899 E-mail: mary@magicfoundation.org Web site: http://magicfoundation.org/www/docs/115/turner-syndrome Turner Syndrome Support Society United Kingdom Phone: +44 (0)141-952-8006 Fax: +44 (0)141-952-8025 E-mail: Turner.Syndrome@tss.org.uk Web site: http://www.tss.org.uk/index.htm Turner Syndrome Society of the United States 10960 Millridge North Drive, Suite 214A Houston, TX 77070 Toll-Free: 800-365-9944 Phone: 832-912-6006 Fax: 832-912-6446 E-mail: tssus@turnersyndrome.org Web site: http://www.turnersyndrome.org The Turner Syndrome Society of the United States provides an overview of the physical, emotional and social issues related to Turner syndrome called, Turner Syndrome - A Guide for Families. Live Chat/E-mail Lists The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more. Parent Matching Organizations Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/

Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations

Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Disease-Specific Organizations
- The MAGIC Foundation
  6645 West North Avenue
  Oak Park, IL 60302
  Toll-Free: 800-362-4423
  Phone: 708-383-0808
  Fax: 708-383-0899
  E-mail: mary@magicfoundation.org
  Web site: http://magicfoundation.org/www/docs/115/turner-syndrome
- Turner Syndrome Support Society
  United Kingdom
  Phone: +44 (0)141-952-8006
  Fax: +44 (0)141-952-8025
  E-mail: Turner.Syndrome@tss.org.uk
  Web site: http://www.tss.org.uk/index.htm
- Turner Syndrome Society of the United States
  10960 Millridge North Drive, Suite 214A
  Houston, TX 77070
  Toll-Free: 800-365-9944
  Phone: 832-912-6006
  Fax: 832-912-6446
  E-mail: tssus@turnersyndrome.org
  Web site: http://www.turnersyndrome.org
  
  The Turner Syndrome Society of the United States provides an overview of the physical, emotional and social issues related to Turner syndrome called, Turner Syndrome - A Guide for Families.
Live Chat/E-mail Lists
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Parent Matching Organizations
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/


Clinical Trials & Research (Found 4 resources) Resources where you may find research studies and clinical trials ClinicalTrials.gov lists trials that are studying or have studied Turner syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query". Link: http://projectreporter.nih.gov/reporter.cfm The Turner Syndrome Society of the United States Web site lists research studies actively enrolling people with Turners syndrome. Click on The Turner Syndrome Society of the United States to view the information page. Patient Registry Turner Syndrome Aorta Dissection Registry Attn: Krista Gaeta 707 SW Gaines Road Mail code: CDRC-P Portland, Oregon 97239 Toll-free: 1-800-882-9996 E-mail: silberbm@ohsu.edu Online registration form: https://www.ohsu.edu/pedscardturner/TSform-test.htm

Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials

- ClinicalTrials.gov lists trials that are studying or have studied Turner syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
  Link: http://projectreporter.nih.gov/reporter.cfm
- The Turner Syndrome Society of the United States Web site lists research studies actively enrolling people with Turners syndrome. Click on The Turner Syndrome Society of the United States to view the information page.
Patient Registry
- Turner Syndrome Aorta Dissection Registry
  Attn: Krista Gaeta
  707 SW Gaines Road
  Mail code: CDRC-P
  Portland, Oregon 97239
  Toll-free: 1-800-882-9996
  E-mail: silberbm@ohsu.edu
  Online registration form: https://www.ohsu.edu/pedscardturner/TSform-test.htm

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