Mendelian inheritance of isolated nonsyndromic cleft palate

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Abstract
Isolated, apparently nonsyndromic cleft palate (CP) is thought to be etiologically heterogeneous. The multifactorial threshold explanation for CP is postulated in most cases. Mendelian inheritance has been documented in 3 families. We report on three unrelated white families with 17 relatives in several generations affected with CP, including submucous CP and bifid/absent uvula. We could find no evidence of a cleft syndrome. In one family, the pattern is consistent with autosomal dominant inheritance. In 2 families, the pattern is consistent with X‐linked recessive inheritance. The specific findings and their implications for family evaluation and genetic counseling are discussed.

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