Acrofacial Dysostosis

Common Name(s)

Acrofacial Dysostosis

Description for this condition is not yet available.
 

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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 12 free, full-text research articles on human participants. First 3 results:

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
 

Author(s): Felipe Marques, Jessica Tenney, Ivan Duran, Jorge Martin, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H Cohn, Bing Li

Journal:

 

The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez ...

Last Updated: 31 Dec 1969

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Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia.
 

Author(s): Ulku Mete Ural, Serdar Ceylaner

Journal: Taiwan J Obstet Gynecol. 2016 Aug;55(4):613-5.

 

Last Updated: 31 Dec 1969

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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
 

Author(s): K Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel, Joaquin Navajas Acedo, Luke L Linscott, Kristen L Sund, Patricia L Bender, Rainer K├Ânig, Charles M Lourenco, Ute Hehr, Robert J Hopkin, Dietmar R Lohmann, Paul A Trainor, Dagmar Wieczorek, Howard M Saal

Journal: Am. J. Hum. Genet.. 2015 May;96(5):765-74.

 

We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1. All three individuals exhibit varying degrees ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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