Acrofacial Dysostosis

Common Name(s)

Acrofacial Dysostosis

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Acrofacial Dysostosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Acrofacial Dysostosis" returned 8 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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Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.
 

Author(s): J G Dauwerse, K Bouman, A J van Essen, A H van Der Hout, G Kolsters, M H Breuning, D J M Peters

Journal: J. Med. Genet.. 2002 Feb;39(2):136-41.

 

Last Updated: 11 Feb 2002

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Familial postaxial acrofacial dysostosis syndrome.
 

Author(s): A Giannotti, M C Digilio, Q Virgili, M G Obregon, A M Guadagni, T Ventura, B Dallapiccola

Journal: J. Med. Genet.. 1992 Oct;29(10):752.

 

Last Updated: 27 Nov 1992

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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 "Acrofacial Dysostosis" returned 2 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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Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
 

Author(s): J Vigneron, M Stricker, P Vert, J M Rousselot, M Levy

Journal: J. Med. Genet.. 1991 Sep;28(9):636-8.

 

We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.

Last Updated: 27 Dec 1991

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.