Alpha-thalassemia mental retardation syndrome

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Alpha-thalassemia mental retardation syndrome
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.
Classification and external resources
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 intellectually disabled 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] Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition.[3]

It is associated with ATRX.[4]

External links[edit]


  1. ^ Online Mendelian Inheritance in Man (OMIM) 301040
  2. ^ Robert J. Gorlin; Meyer Michael Cohen; Raoul C. M. Hennekam (2001). Syndromes of the Head and Neck. Oxford University Press. p. 986. ISBN 0-19-511861-8. 
  3. ^ Stevenson, Roger E. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Dolan, Cynthia R.; Fong, Chin-To, eds. Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. Seattle (WA): University of Washington, Seattle. PMID 20301622. 
  4. ^ 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. doi:10.1093/hmg/ddn424. PMID 19088125.