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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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How might Nager acrofacial dysostosis be treated?

In infants with Nager acrofacial dysostosis who experience respiratory distress require immediate attention and may require a tracheostomy.  A tracheostomy is a surgical procedure on the neck that opens a direct airway through an incision in the windpipe.

Infants with feeding difficulties may require surgery and/or placement of a feeding tube (gastrostomy). Surgery can be performed to repair cleft palate and often micrognathia. Cosmetic surgery, especially for eyelids, can be performed to ensure complete closure of eyelids at night in order to prevent injury of the cornea.[1] Surgical treatment is best accomplished at a craniofacial center with expertise in plastic surgery, otolaryngology, orthodontics, and dentistry.[2] Hearing aids for individuals with conductive hearing loss should be offered. [1]
Last updated: 4/9/2010

  1. Opitz J. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia. 2003; Accessed 2/25/2014.
  2. Wulfsberg EA. Nager syndrome. In: Winters R et al.,. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2002;

Clinical Trials & Research for this Disease

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.