National Organization for Rare Disorders, Inc.
It is possible that the main title of the report ATR-16 Syndrome is not the name you expected.
ATR-16 syndrome is an extremely rare genetic disorder in which affected individuals have a large loss of genetic material (monosomy) on chromosome 16 in which several adjacent genes are lost. Symptoms include intellectual disability, clubfoot, head circumference that is smaller than would be expected based upon an infant's age and gender (microcephaly), and alpha thalassemia, a blood disorder characterized in this disorder by reduced levels of functional hemoglobin. Hemoglobin, a protein that is found in red blood cells, is responsible for carrying oxygen throughout the body via the blood. Some affected infants have distinctive facial features including eyes that are spaced apart farther than usual (hypertelorism), a broad, prominent bridge of the nose, small ears, and a short neck. ATR-16 syndrome is a contiguous gene syndrome, in which the loss of genetic material on chromosome 16 causes the loss of function of several adjacent genes. ATR-16 syndrome occurs as a spontaneous (de novo) event with no previous family history or in parents with a balanced chromosomal translocation that is inherited in an unbalanced manner.
The uncommon combination of alpha thalassemia and intellectual disability was first reported in the medical literature in 1981 by Dr. Weatherall, et al. Since that original description, two distinct syndromes have been defined through additional case reports in the medical literature. One is alpha thalassemia X-linked intellectual disability or ATR-X syndrome. NORD has a separate report on this disorder in the Rare Disease Database. The other is ATR-16 syndrome, the subject of this report.
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
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Last Updated: 4/24/2015
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