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Alpha Thalassemia X-linked Mental Retardation Syndrome
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Copyright 2006
NORD is grateful to Roger E. Stevenson, MD, of the Greenwood Genetic Center for assistance in the preparation of this report.
Synonyms of Alpha Thalassemia X-linked Mental Retardation Syndrome
- ATR-X Syndrome
- Carpenter-Waziri Syndrome
- Cerebrofaciogenital Syndrome
- Chudley-Lowry Syndrome
- Holmes-Gang Syndrome
- XLMR-Hypotonic Face Syndrome
Disorder Subdivisions
General Discussion
Alpha thalassemia X-linked mental retardation (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 trait.
Some researchers have suggested the name XLMR-hypotonic facies syndrome be used to designate several disorders formerly considered separate entities including ATR-X syndrome, Carpenter-Waziri syndrome, Chudley-Lowry syndrome and Holmes-Gang 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.
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Organizations related to Alpha Thalassemia X-linked Mental Retardation Syndrome
- Arc
1660 L Street, NW, Suite 301
Washington DC 20036
Phone #: 202-534-3700
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Mental Health
6001 Executive Blvd
Rm 8184, MSC 9663
Rockville MD 20892-9663
Phone #: 301-443-4513
800 #: --
e-mail: nimhinfo@nih.gov
Home page: http://www.nimh.nih.gov/
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
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