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Diseases

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
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Symptoms

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What are the signs and symptoms of Nager acrofacial dysostosis?

Nager acrofacial dysostosis is characterized by limb and facial anomalies.

Limb anomalies more commonly reported in people with Nager acrofacial dysostosis, include:[1][2]

  • Underdeveloped or absent radius
  • Underdeveloped or absent thumbs
  • Thumbs with two knuckles (triphalangeal thumbs)
  • Joined radius and ulnar bones (radioulnar synostosis)

Facial anomalies more commonly reported in people with Nager acrofacial dysostosis, include:[1][2] 

  • Underdeveloped jaw (micrognathia)
  • Underdeveloped cheekbones
  • Downward slanting eyes
  • Reduced number of eyelashes
  • Small missing segment of the lower eyelid (eyelid coloboma)
  • Lack of development of the internal and/or external ear
  • Cleft palate

Complications of Nager acrofacial dysostosis may include hearing problems due to abnormal internal and/or external ear development, and breathing and feeding difficulties in infancy due to micrognathia and cleft palate.[3]

Last updated: 4/9/2010

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.
  2. Opitz J. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia. 2003; http://www.orpha.net/data/patho/GB/uk-nager.pdf. Accessed 2/25/2014.
  3. Wulfsberg EA. Nager syndrome. In: Winters R et al.,. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2002;


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