Alpha-thalassemia/mental retardation syndrome, x-linked
What is X-linked alpha-thalassemia/mental retardation syndrome?
Alpha-thalassemia X-linked intellectual disability syndrome is a genetic condition that affects different parts of the body. Nearly all individuals with this condition are male. Males with this condition have distinctive facial features, abnormal genitalia, low muscle tone, global developmental delay, and mild-to-moderate anemia due to a problem with hemoglobin (known as alpha-thalassemia).
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Are there other names for X-linked alpha-thalassemia/mental retardation syndrome?
Alpha-thalassemia X-linked intellectual disability syndrome used to be called alpha-thalassemia/mental retardation syndrome, X-linked; however, the term "mental retardation" has fallen from favor in recent years and thus has been replaced with the term "intellectual disability". Similarly, X-linked mental retardation-hypotonic face syndrome is an outdated name for this disorder. This condition is also known as ATR-X syndrome or ATRX syndrome in reference to the gene which causes this disorder.
The ATRX gene, changes in which cause alpha-thalassemia X-linked intellectual disability syndrome, has also been associated with the following disorders: Carpenter-Waziri syndrome, Holmes-Gang syndrome, Chudley-Lowry syndrome, XLID-arch fingerprints-hypotonia disorder, XLID with spastic paraplegia, XLID with epilepsy, and nonsyndromic XLID. Because these syndromes are associated with intellectual disability, hypotonia, and other symptoms that can be seen in alpha-thalassemia X-linked intellectual disability syndrome and because they are caused by changes in the same gene, their names should no longer be used and instead they should be included within the spectrum of alpha-thalassemia X-linked intellectual disability syndrome.
How common is alpha-thalassemia X-linked intellectual disability syndrome?
Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) is very rare. There are only a few hundred ATRX families described in published literature. However, it is possible that some individuals with milder symptoms are not recognized as having the condition and therefore are not clinically diagnosed.