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Genetic and Rare Diseases Information Center (GARD)

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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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What causes Nager acrofacial dysostosis?

There is evidence that at least some cases of Nager acrofacial dysostosis are caused by heterozygous mutation in the SF3B4 gene which is located on chromosome 1q12-q21.[1]
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.