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Alpha-thalassemia x-linked intellectual disability syndrome
Other Names for this Disease
- Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked
- ATR, nondeletion type
- ATRX syndrome
- XLMR hypotonic face syndrome
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Overview
Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.[1]
References
- Stevenson RE. Alpha-thalassemia x-linked intellectual disability syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1449/. Accessed September 28, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on Alpha-thalassemia x-linked intellectual disability syndrome. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha-thalassemia x-linked intellectual disability syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alpha-thalassemia x-linked intellectual disability syndrome. Click on the link to go to OMIM and review these resources.