Alpha-thalassemia mental retardation syndrome

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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]

External links

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 301040
^ 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.
^ 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. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=19088125.

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Sex linkage: X-linked disorders

X-linked recessive

Immune	Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiency

Hematologic	Haemophilia A · Haemophilia B · X-linked sideroblastic anemia

Endocrine	Androgen insensitivity syndrome/Kennedy disease · KAL1 Kallmann syndrome · X-linked adrenal hypoplasia congenita

Metabolic	amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome dyslipidemia: Adrenoleukodystrophy carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb lipid storage disorder: Fabry's disease mucopolysaccharidosis: Hunter syndrome purine-pyrimidine metabolism: Lesch–Nyhan syndrome mineral: Menkes disease/Occipital horn syndrome

Nervous system	X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2

Skin and related tissue	Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis · X-linked endothelial corneal dystrophy

Neuromuscular	Becker's muscular dystrophy/Duchenne · Centronuclear myopathy (MTM1) · Conradi–Hünermann syndrome · Emery–Dreifuss muscular dystrophy 1

Urologic	Alport syndrome · Dent's disease · X-linked nephrogenic diabetes insipidus

Bone/tooth	AMELX Amelogenesis imperfecta

No primary system	Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson–Golabi–Behmel syndrome · Mohr–Tranebjærg syndrome · Nasodigitoacoustic syndrome

X-linked dominant

X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan–Fryns syndrome · Orofaciodigital syndrome 1

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