Acrofacial dysostosis

Definition:

Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. Among several AFDs, causative mutations have recently been identified in an enzyme involved in pyrimidine biosynthesis in association with Miller syndrome, and in a component of the pre-mRNA spliceosomal complex with respect to Nager syndrome.

References:

[1]. C Verrotti, et al. Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review. J Matern Fetal Neonatal Med. 2007 Jun;20(6):487-90. [Content Brief]

[2]. D Wieczorek, et al. Human facial dysostoses. Clin Genet. 2013 Jun;83(6):499-510. [Content Brief]

[3]. Francois P Bernier, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet. 2012 May 4;90(5):925-33. [Content Brief]

[4]. J M Opitz, et al. Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet. 1993 Oct 1;47(5):660-78. [Content Brief]

[5]. K Nicole Weaver, et al. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 7;96(5):765-74. [Content Brief]

[6]. Paul A Trainor, et al. Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283-94. [Content Brief]

[7]. Sarah B Ng, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. [Content Brief]

[8]. V L Ruiz-Perez, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000 Mar;24(3):283-6. [Content Brief]

[9]. Xiaoqian Ye, et al. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Hum Genet. 2006 Mar;119(1-2):199-205. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.