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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
More Names
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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.[1][2] Treatment is tailored to the individual based upon their specific needs.[2] This condition is caused by mutations in the SF3B4 gene.[1] While most cases are sporadic (occurring in families with no prior history of the disorder), autosomal dominant and autosomal recessive inheritance have been reported.[3]
Last updated: 2/25/2014


  1. O'Neill MJF. ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1. Online Mendelian Inheritance in Man. October 8, 2013; Accessed 2/25/2014.
  2. Opitz J. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia. 2003; Accessed 2/25/2014.
  3. Nager syndrome. Genetics Home Reference (GHR). July 2010; Accessed 2/25/2014.
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Basic Information

  • 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.