Nager acrofacial dysostosis

Common Name(s)

Nager acrofacial dysostosis, Nager Syndrome

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. Treatment is tailored to the individual based upon their specific needs. This condition is caused by mutations in the SF3B4 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nager acrofacial dysostosis" for support, advocacy or research.

Foundation for Nager and Miller Syndromes

FNMS is an international support group dedicated to helping those affected by Nager and Miller syndromes. We serve as a clearinghouse of information and link families seeking support, hope and advice.

http://www.fnms.net

Last Updated: 12 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nager acrofacial dysostosis" for support, advocacy or research.

Foundation for Nager and Miller Syndromes

FNMS is an international support group dedicated to helping those affected by Nager and Miller syndromes. We serve as a clearinghouse of information and link families seeking support, hope and advice.

http://www.fnms.net

Last Updated: 12 Dec 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Nager acrofacial dysostosis" returned 3 free, full-text research articles on human participants. First 3 results:

Autosomal recessive inheritance of Nager acrofacial dysostosis.
 

Author(s): J Chemke, B M Mogilner, I Ben-Itzhak, L Zurkowski, D Ophir

Journal: J. Med. Genet.. 1988 Apr;25(4):230-2.

 

Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this ...

Last Updated: 16 Jun 1988

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Sonography of Nager acrofacial dysostosis syndrome in utero.
 

Author(s): C B Benson, B R Pober, M P Hirsh, P M Doubilet

Journal: J Ultrasound Med. 1988 Mar;7(3):163-7.

 

Last Updated: 3 May 1988

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The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.
 

Author(s): E Thompson, R Cadbury, M Baraitser

Journal: J. Med. Genet.. 1985 Oct;22(5):408-10.

 

A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.

Last Updated: 11 Feb 1986

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Nager acrofacial dysostosis" returned 1 free, full-text review articles on human participants. First 3 results:

Nager acrofacial dysostosis.
 

Author(s): M T McDonald, J L Gorski

Journal: J. Med. Genet.. 1993 Sep;30(9):779-82.

 

Last Updated: 17 Nov 1993

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.