Alpha Thalassemia X-linked Mental Retardation Syndrome

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Important

It is possible that the main title of the report Alpha Thalassemia X-linked Mental Retardation Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• ATR-X Syndrome
• Carpenter-Waziri Syndrome
• Chudley-Lowry Syndrome
• Holmes-Gang Syndrome
• Cerebrofaciogenital Syndrome
• XLMR-Hypotonic Face Syndrome

Disorder Subdivisions

• None

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.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



The Arc (a national organization on mental retardation)

1010 Wayne Ave

Suite 650

Silver Spring, MD 20910

Tel: (301)565-3842

Fax: (301)565-3843

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org/



NIH/National Institute of Mental Health

6001 Executive Blvd

Rm 8184, MSC 9663

Rockville, MD 20892-9663

Tel: (301)443-4513

Email: nimhinfo@nih.gov

Internet: http://www.nimh.nih.gov/



National Institute of Neurological Disorders and Stroke (NINDS)

31 Center Drive

8A07

Bethesda, MD 20892-2540

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Email: braininfo@ninds.nih.gov

Internet: http://www.ninds.nih.gov/



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/

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

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:  3/31/2008

Copyright  2006 National Organization for Rare Disorders, Inc.

Last updated:	March 31, 2008