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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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Your Question

Is Nager dysostosis inherited? Do family members tend to be similarly affected?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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 is Nager acrofacial dysostosis inherited?

Most cases of Nager acrofacial dysostosis have been sporadic. Sporadic means that the condition occurs for the first time in a family due to a new mutation. People with sporadic disease tend to be the first person affected in his or her family, however they are still at risk for passing the condition on to their future children.[1][2][4]

There have been reports of families with Nager acrofacial dysostosis demonstrating an autosomal dominant and others autosomal recessive pattern of inheritance.

Autosomal dominant means each child of an affected parent has a 50-50 chance of inheriting the mutant gene. If a child does not inherit the mutant gene, he or she will not develop the disease and cannot pass it to subsequent generations.

Autosomal recessive means the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. These parents have a 25% chance with each pregnancy of having a child with Nager acrofacial dysostosis.
Last updated: 4/8/2010

Do signs and symptoms of Nager acrofacial dysostosis tend to be the same or similar within affected family members?

No. Signs and symptoms of Nager acrofacial dysostosis vary, even within affected family members.  For example, Le Merrer et al. reported a case of an infant with a severe lethal form of Nager acrofacial dysostosis, who was born to amother who was relatively mildly affected.[5]  This variability in symptoms appears to be true for both the inherited and sporadic forms.[2]
Last updated: 4/9/2010

Is genetic testing available for Nager acrofacial dysostosis?

Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 2/25/2014

Can Nager acrofacial dysostosis be detected in pregnancy?

In pregnancies at risk for Nager acrofacial dysostosis, signs of the condition may be identifiable by second trimester prenatal ultrasonography. Detection will depend on many factors including the severity of the condition in the developing baby and the skill of the ultrasonographer.
Last updated: 4/9/2010

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

  • O'Neill MJF. ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1. Online Mendelian Inheritance in Man. October 8, 2013; Accessed 2/25/2014.
  • Opitz J. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia. 2003; Accessed 2/25/2014.
  • Nager syndrome. Genetics Home Reference (GHR). July 2010; Accessed 2/25/2014.
  • Wulfsberg EA. Nager syndrome. In: Winters R et al.,. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2002;
  • Le Merrer M, Cikuli M, Ribier J, Briard M. Acrofacial dysotosis. Am Med Genet. 1989;
  • Hecht, J. T.; Immken, L. L.; Harris, L. F.; Malini, S.; Scott, C. I., Jr. The Nager syndrome. Am. J. Med. Genet. 1987;