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

Overview

What is Nager acrofacial dysostosis?

What are the signs and symptoms of Nager acrofacial dysostosis?

What causes Nager acrofacial dysostosis?

How might Nager acrofacial dysostosis be treated?

What is Nager acrofacial dysostosis?

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

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.[4]

Last updated: 4/9/2010

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

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.[2] Surgical treatment is best accomplished at a craniofacial center with expertise in plastic surgery, otolaryngology, orthodontics, and dentistry.[4] Hearing aids for individuals with conductive hearing loss should be offered. [2]
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. Nager syndrome. Genetics Home Reference (GHR). July 2010; http://ghr.nlm.nih.gov/condition/nager-syndrome. Accessed 2/25/2014.
  4. 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.