Genee-Wiedemann Syndrome

Common Name(s)

Genee-Wiedemann Syndrome, Miller syndrome, Postaxial Acrofacial Dysostosis (POADS)

Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by {11:Ng et al., 2010}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Genee-Wiedemann Syndrome" 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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Genee-Wiedemann Syndrome" 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 "Genee-Wiedemann Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
 

Author(s): Joe Rainger, Hemant Bengani, Leigh Campbell, Eve Anderson, Kishan Sokhi, Wayne Lam, Angelika Riess, Morad Ansari, Sarah Smithson, Melissa Lees, Catherine Mercer, Kathryn McKenzie, Tobias Lengfeld, Blanca Gener Querol, Peter Branney, Stewart McKay, Harris Morrison, Bethan Medina, Morag Robertson, Jürgen Kohlhase, Colin Gordon, Jean Kirk, Dagmar Wieczorek, David R Fitzpatrick

Journal: Hum. Mol. Genet.. 2012 Sep;21(18):3969-83.

 

Biallelic mutations in the gene encoding DHOdehase [dihydroorotate dehydrogenase (DHODH)], an enzyme required for de novo pyrimidine biosynthesis, have been identified as the cause of Miller (Genée-Weidemann or postaxial acrofacial dysostosis) syndrome (MIM 263750). We report compound ...

Last Updated: 28 Aug 2012

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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 "Genee-Wiedemann Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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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.