Acromelic Frontonasal Dysostosis

Common Name(s)

Acromelic Frontonasal Dysostosis

{13:Verloes et al. (1992)} described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Children's Craniofacial Association

Empowering and giving hope to individuals and families affected by facial differences.

Last Updated: 13 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Children's Craniofacial Association

Empowering and giving hope to individuals and families affected by facial differences.

http://www.ccakids.org

Last Updated: 13 Jul 2015

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 "Acromelic Frontonasal Dysostosis" returned 1 free, full-text research articles on human participants. First 3 results:

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
 

Author(s): Joshua D Smith, Anne V Hing, Christine M Clarke, Nathan M Johnson, Francisco A Perez, Sarah S Park, Jeremy A Horst, Brig Mecham, Lisa Maves, Deborah A Nickerson, , Michael L Cunningham

Journal: Am. J. Hum. Genet.. 2014 Aug;95(2):235-40.

 

Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and intellectual ...

Last Updated: 9 Aug 2014

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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 "Acromelic Frontonasal Dysostosis" 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.