Weyers acrofacial dysostosis

Definition:

Weyers acrofacial dysostosis (WAD), also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in EVC1 or EVC2 genes. Both EVC1 and EVC2 localize to the basal bodies of primary cilia and play a role in hedgehog signaling.

References:

[1]. Maria Cecilia D'Asdia, et al. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. Eur J Med Genet. 2013 Feb;56(2):80-7. [Content Brief]

[2]. T D Howard, et al. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet. 1997 Dec;61(6):1405-12. [Content Brief]

[3]. Victor L Ruiz-Perez, et al. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. [Content Brief]

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