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| Alpha-Thalassemia X-Linked Intellectual Disability 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 |
Alpha-thalassemia intellectual disability syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability, nondeletion type or ATR-X syndrome,[1] is a condition caused by a genetic variation.
Females with this gene variation 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]
It is associated with ATRX.[3]
See also[]
References[]
- ↑ 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 links[]
- GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; ATRX Syndrome; Alpha Thalassemia/Mental Retardation, X-Linked; XLMR-Hypotonic Face Syndrome
- OMIM entries on Alpha-Thalassemia X-Linked Mental Retardation Syndrome
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 |
| 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. | |