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X-linked alpha thalassemia mental retardation syndrome
Classification and external resources
Child of 8 yrs with the characteristic facial features of ATR-X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies.
OMIM 301040

Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome,[1] is a condition caused by a mutated gene. Females with this mutated gene have no specific signs or features, but may demonstrate skewed X chromosome inactivation. Hemizygous males tend to be moderately mentally retarded and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip, and an everted lower lip.[2]

It is associated with ATRX.[3]

See alsoEdit


  1. OMIM 301040
  2. Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam (2001). Syndromes of the Head and Neck , Oxford University Press.
  3. Medina CF, Mazerolle C, Wang Y, et al. (March 2009). Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome. Hum. Mol. Genet. 18 (5): 966–77.

External linksEdit


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