Turner Syndrome - General Discussion

SYMPTOMS & TREATMENTS

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.

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
Copyright 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1994, 1995, 1996, 1997, 1999, 2004, 2008National Organization for Rare Disorders, Inc.

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