Oligodontia-colorectal cancer syndrome

Definition:

Oligodontia-colorectal cancer syndrome (ODCRCS) is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least eight permanent teeth. The disease is caused by a nonsense mutation in AXIN2.

References:

[1]. Isabelle Bailleul-Forestier, et al. The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur J Med Genet. 2008 Jul-Aug;51(4):273-91. [Content Brief]

[2]. Laura Lammi, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004 May;74(5):1043-50. [Content Brief]

[3]. Monica L Marvin, et al. AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. Am J Med Genet A. 2011 Apr;155A(4):898-902. [Content Brief]

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