Nager acrofacial dysostosis
Other Names for this Disease
- Acrofacial dysostosis 1, Nager type
- AFD, Nager type
- Mandibulofacial dysostosis with preaxial limb anomalies
- Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
 Treatment is tailored to the individual based upon their specific needs. This condition is caused by mutations in the SF3B4 gene. While most cases are sporadic (occurring in families with no prior history of the disorder), autosomal dominant and autosomal recessive inheritance have been reported.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.
Last updated: 2/25/2014
- O'Neill MJF. ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1. Online Mendelian Inheritance in Man. October 8, 2013; http://omim.org/entry/154400. Accessed 2/25/2014.
- Opitz J. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia. 2003; http://www.orpha.net/data/patho/GB/uk-nager.pdf. Accessed 2/25/2014.
- Nager syndrome. Genetics Home Reference (GHR). July 2010; http://ghr.nlm.nih.gov/condition/nager-syndrome. Accessed 2/25/2014.
- The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
- Genetics Home Reference (GHR) contains information on Nager acrofacial dysostosis. This website is maintained by the National Library of Medicine.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.