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X-linked alpha thalassemia mental retardation syndrome
	Classification and external resources
	Template:Px; 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

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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]

ReferencesEdit

↑ OMIM 301040
↑ Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam (2001). Syndromes of the Head and Neck , Oxford University Press.
↑ 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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[0] OMIM 301040

[1] Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam (2001). Syndromes of the Head and Neck , Oxford University Press.

[pmid19088125-2] 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.

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[2]

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v·d·e Sex linkage: X-linked recessive disorders
Immune	Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked Severe Combined Immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX
Hematologic	Haemophilia A · Haemophilia B · X-linked sideroblastic anemia · X-linked lymphoproliferative disease
Endocrine	Androgen insensitivity syndrome/Kennedy disease · Diabetes insipidus
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
Nervous system	X-Linked mental retardation: Coffin-Lowry syndrome · Fragile X syndrome · MASA syndrome · Rett 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
Skin	Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis
Neuromuscular	Becker's muscular dystrophy/Duchenne · Centronuclear myopathy · Myotubular myopathy · Conradi-Hünermann syndrome
Urologic	Alport syndrome · Dent's disease
No primary system	Barth syndrome · McLeod syndrome · Simpson-Golabi-Behmel syndrome
Note: there are very few X-linked dominant disorders. These include X-linked hypophosphatemia, Focal dermal hypoplasia, Aicardi syndrome, Incontinentia pigmenti, and CHILD.

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X-linked alpha thalassemia mental retardation syndrome

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X-linked alpha thalassemia mental retardation syndrome
Classification and external resources
Template:Px 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