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.
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.