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Diseases

Genetic and Rare Diseases Information Center (GARD)

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
  • NAFD
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Cause

Newline Maker

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

References
  1. 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.


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
  • NAFD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.