Nager acrofacial dysostosis

Common Name(s)

Nager acrofacial dysostosis, Nager Syndrome

Nager acrofacial dysostosis (NAFD, Nager syndrome) is a rare disorder that affects the development of the face, hands, and arms. The severity of this condition is variable among affected individuals. People with Nager syndrome usually have downward slanting eyes, a small lower jaw, absent or underdeveloped cheekbones and ears, and may also be born with an opening in the roof of the mouth also known as a cleft palate. People with Nager syndrome may also have bone abnormalities in their hands or arms. The most common of these is malformed or absent thumbs, but they may also exhibit curved fingers (clinodactyly) or fused fingers (syndactyly). They may have a shortened forearm due to underdeveloped bones and have difficulty extending their elbows. In rare cases, affected individuals may also experience heart, kidneys, genitalia, and urinal tract problems. People with Nager syndrome usually have normal levels of intelligence. Currently, the cause of Nager syndrome is unknown, but most cases are found to be sporadic meaning there were no previous cases of the condition in their family history. However, there have been a few familial cases reported. Treatment of Nager depends on the specific symptoms and challenges present. Hearing aids are usually given to assist the individuals with any hearing loss. Plastic and/or facial surgery may also be required to fix breathing and feeding problems. Early intervention with physical, occupational, and speech therapies will also maximize one’s capabilities. If you or a family member is diagnosed with Nager syndrome, know that you are not alone, and that there are families and organizations available for help and support and numerous of online resources.

Source: Advocacy organizations associated with the condition.

 

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.

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

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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.