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Alpha Thalassemia X-linked Intellectual Disability Syndrome

Abstract

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NORD is very grateful to Roger E. Stevenson, MD, Director, Greenwood Genetic Center, JC Self Research Institute of Human Genetics, for assistance in the preparation of this report.

Synonyms of Alpha Thalassemia X-linked Intellectual Disability Syndrome

  • ATR-X syndrome
  • Carpenter-Waziri syndrome
  • cerebrofaciogenital syndrome
  • Chudley-Lowry syndrome
  • Holmes-Gang syndrome
  • XLID-hypotonic face syndrome
  • X-linked intellectual disability - arch fingerprints- hypotonia syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Organizations related to Alpha Thalassemia X-linked Intellectual Disability Syndrome

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

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