Alpha Thalassemia X-linked Mental Retardation Syndrome / Disease

Diseases & Conditions

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Alpha Thalassemia X-linked Mental Retardation Syndrome

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.

Organizations related to Alpha Thalassemia X-linked Mental Retardation Syndrome

MUMS (Mothers United for Moral Support, Inc) 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 #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
NIH/National Institute of Mental Health
6001 Executive Blvd
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)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/

For a Complete Report

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