Spalthand-/Spaltfu?fehlbildungen

Split-hand/foot malformation (SHFM), also known as ectrodactyly, is characterized by malformations primarily affecting the central rays of the hands and/or feet that often result in formation of a deep median cleft. Based on the study of mouse models a defect in the maintenance of the apical ectodermal ridge has been postulated as the underlying pathomechanism. Currently, six loci for SHFM have been mapped, and point mutations as well as genomic rearrangements (duplications, deletions, translocations) have been identified. However, in many cases the genetic cause still remains unknown. Using genome-wide screening methods such as array CGH, microduplications at chromosome 17p13.3 were recently shown to be associated with ectrodactyly and tibial hemimelia. This article presents an overview of the genetic principles, pathogenesis and inheritance underlying SHFM as well as a scheme for diagnostic approaches to non-syndromic SHFM.