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Nager acrofacial dysostosis
Other Names for this Disease
- Acrofacial dysostosis 1, Nager type
- AFD, Nager type
- Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies
- Nager acrofacial dysostosis syndrome
- Nager syndrome
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Overview
Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. The signs and symptoms of Nager acrofacial dysostosis vary among affected individuals, even among those in the same family. Treatment is tailored to the individual based upon their specific needs. This condition is caused by mutations in the SF3B4 gene.
References
- O'Neill MJF. ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1. Online Mendelian Inheritance in Man. http://omim.org/entry/154400. Accessed June 25, 2012.
- Opitz J. http://omim.org/entry/154400. Orphanet Encyclopedia. 2003. http://www.orpha.net/data/patho/GB/uk-nager.pdf. Accessed June 25, 2012.
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On this page
General Information
- The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
- More information on limb abnormalities can be found at the following link from MEDLINEplus, the National Library of Medicine Web site designed to help you research your health questions.
- 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 Nager acrofacial dysostosis. 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 Nager acrofacial dysostosis. Click on the link to go to OMIM and review these resources.