Patterns of combined limb malformations

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Abstract
Seven different limb malformation types were defined in 544 affected newborns, apparently free from other anomalies, obtained from a series of 297,299 livebirths. These seven malformation types were: polydactyly, limb reduction, brachydactyly, symphalangy, syndactyly and split hand/foot. One anomaly type was present in 472 newborns (1.58/1,000) and two or three in 72 (0.24/1,000). The observed combinations of two or three limb malformation types cannot be explained as chance association. Therefore, a common etiopathogenic mechanism has to be considered when two or more limb malformation types are combined in a given individual. The most frequent observed combinations were: reduction‐brachydactyly, reduction‐syndactyly, brachydactyly‐syndactyly, polydactyly‐syndactyly, and reduction‐brachydactyly‐syndactyly. Based on affected limb distribution, sex ratio, and familial recurrence rates, it is suggested that a reduction anomaly is the primary component in all tested combinations while syndactyly tends to be a secondary one when combined with any other limb anomaly type.