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Genetic and Rare Diseases Information Center (GARD)

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Turner syndrome


Other Names for this Disease
  • 45, X Syndrome
  • 45,X syndrome
  • 45,X/46,XX syndrome
  • Bonnevie-Ulrich syndrome
  • Chromosome X Monosomy X
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Turner syndrome is a chromosomal disorder that usually affects development in females.[1] Symptoms differ among individuals, but may include 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.[2] Females without Turner syndrome have 2 full X chromosomes in each of their cells. An individual with Turner syndrome is missing all or part of one X chromosome. Although it is genetic, it is typically not inherited. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome become pregnant.[3]
Last updated: 6/18/2012

References

  1. Learning About Turner Syndrome. National Human Genome Research Institute. June 28, 2010; http://www.genome.gov/19519119. Accessed 12/14/2010.
  2. Turner syndrome. Genetics Home Reference. September 2005; http://ghr.nlm.nih.gov/condition=turnersyndrome. Accessed 4/7/2008.
  3. Turner syndrome. MedlinePlus. December 4, 2010; http://www.nlm.nih.gov/medlineplus/turnersyndrome.html. Accessed 12/14/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

7 question(s) from the public on Turner syndrome have been answered. See questions and answers . You can also submit a new question.

Basic Information

  • 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 information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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

Other Names for this Disease
  • 45, X Syndrome
  • 45,X syndrome
  • 45,X/46,XX syndrome
  • Bonnevie-Ulrich syndrome
  • Chromosome X Monosomy X
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.