Alpha Thalassemia X-linked Mental Retardation Syndrome

National Organization for Rare Disorders, Inc.

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)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

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)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

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

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