Sporadic familial polydactyly

Polydactyly is one of the most common congenital deformities of the hands. It can occur as an Isolated disorder, in association with other malformations of the hands or feet, or as part of a syndrome. It can occur sporadically but it can also be inherited with a mainly autosomal dominant inheritance. We present a family with three out of four members of the last generation with no previous history of polydactyly. Although the affected children presented different phenotypes of polydactyly, probably all three cases were the result of the same mutation seen in one of the parents. In addition no syndromic association could be found. Our experience with the management of this family's members is presented and possible etiological factors and treatment modalities are discussed.