National Organization for Rare Disorders, Inc.
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.
Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person to another. Affected females can potentially develop a wide variety of symptoms, affecting many different organ systems. Common symptoms include short stature and premature ovarian failure, which can result in the failure to attain puberty. Most women with Turner syndrome are infertile. A variety of additional symptoms can occur including abnormalities of the eyes and ears, skeletal malformations, heart anomalies, and kidney abnormalities. Intelligence is usually normal, but affected individuals may experience certain learning disabilities. Turner syndrome may be diagnosed before birth or shortly after birth or during early childhood. However, in some cases, the disorder may not be diagnosed until well into adulthood, often as an incidental finding. The exact, underlying cause of Turner syndrome is not known. Furthermore, most cases do not run in families and appear to occur randomly for no apparent reason (sporadically).
Turner syndrome is named for Henry Turner who, in 1938, was one of the first doctors to report on the disorder in the medical literature. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
6645 W. North Avenue
Oak Park, IL 60302
Turner Syndrome Society of the United States
11250 West Road, Suite G
Houston, TX 77065
Turner's Syndrome Society of Canada
30 Cleary Avenue
Ontario, K2A 4A1
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Turner Syndrome Support Society (UK)
13 Simpson Court
11 South Ave
Clydebank Business Park
Clydebank, G81 2NR
Tel: 0141 952 8006
Fax: 0141 952 8025
Tel: 0845 2307520
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 email@example.com
Last Updated: 6/4/2012
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