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.
Information on healthetreatment comes from people like you and me.
There isn’t much information on Alpha Thalassemia X-linked Intellectual Disability Syndrome, but by creating an account, you’ll be one of the first to help others learn more, and start to feel better.
Most effective Alpha Thalassemia X-linked Intellectual Disability Syndrome treatments reported by our members
No treatments have been listed
Most severe Alpha Thalassemia X-linked Intellectual Disability Syndrome symptoms reported by our members
There have been no symptoms added by our members for this condition yet.