Alpha Thalassemia X-linked Intellectual Disability Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Alpha Thalassemia X-linked Intellectual Disability Syndrome is not the name you expected.
Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by mental retardation, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia. Alpha thalassemia, which is a condition where there is a defect in the production of the oxygen-carrying pigments of red blood cells (hemoglobin), is not seen in every case. Additional abnormalities are usually present in most cases. ATR-X syndrome is inherited as an X-linked recessive genetic condition.
Some researchers have suggested the name XLID-hypotonic face syndrome be used to designate several disorders formerly considered separate entities including ATR-X syndrome, Carpenter-Waziri syndrome, Chudley-Lowry syndrome, Holmes-Gang syndrome and X-linked intellectual disability-arch fingerprints-hypotonia syndrome. All of these syndromes occur due to mutations of the same gene on the X chromosome. Some researchers prefer use of the name ATR-X syndrome because it is the most widely-recognized term for this disorder.
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or firstname.lastname@example.org
- Website: http://www.marchofdimes.org and nacersano.org
NIH/National Institute of Mental Health
- Health Science Writing, Press and Dissemination Branch
- 6001 Executive Boulevard
- Bethesda, MD 20892-9663
- Tel: (301)443-4513
- Fax: (301)443-4279
- Tel: (866)615-6464
- Email: email@example.com
- Website: http://www.nimh.nih.gov/index.shtml
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
Thalassemia Support Foundation
- PO Box 26398
- Santa Ana, CA 92799
- Email: firstname.lastname@example.org
- Website: http://www.helpthals.org
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: email@example.com
- Website: http://www.thearc.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 9/15/2010
Copyright 2010 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.