Ectrodactyly is also known as split hand-split foot malformation (SHFM). It is part of the spectrum of failure of formation of parts in the Swanson-IFSSH classification scheme. Particularly, there is a central deficiency of formation. It is inherited in an autosomal dominant manner with variable penetrance. There is believed to be a mutation in chromosome 3q27 leading to a failure of maintenance of the apical ectodermal ridge during embyogenesis.
Classical features include cleft hands and feet. Ectrodactyly can be seen as part of the EEC syndrome.
Last reviewed 01/2018