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Cleft lip and palate is due to tissues of the face not properly joining together during development. They are a type of birth defect. The cause in most cases is unknown. Risk factors include smoking during pregnancy, diabetes, an older mother, obesity, and certain medications such as some used to treat seizures.
A role for IRF6 in the common forms of cleft lip and palate has also been demonstrated and may explain ~20% of cases of cleft lip only. Variants in IRF6 have yielded consistent evidence of association with syndromic cleft and/or palate across multiple studies.