Weyers acrofacial dysostosis;
Curry-Hall syndrome

Acrofacial dysostosis [DS:H01376]

Weyers acrofacial dysostosis, 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.

Congenital malformation

EVC1 [HSA:2121] [KO:K19605]
EVC2 [HSA:132884] [KO:K19608]

PMID:9399901

Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW

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 61:1405-12 (1997)
DOI:10.1086/301643

PMID:19876929

Ruiz-Perez VL, Goodship JA

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 151C:341-51 (2009)
DOI:10.1002/ajmg.c.30226

PMID:23220543

D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

Eur J Med Genet 56:80-7 (2013)
DOI:10.1016/j.ejmg.2012.11.005