Syndactyly: scientists discover that skin cells play a role

A new study conducted by researchers at the University of California focused on syndactyly, a congenital malformation that sees children born with two or more fused fingers, both in the hands and feet.
The malformation is due to insufficient removal of connective tissue when the embryo is developing.

The new study, published in Developmental Cell, shows that the skin also plays an active role. Explaining the results of the study is Ghaidaa Kashgari, researcher at the Department of Biological Chemistry of the UCI School of Medicine: “Our study identifies the epidermal development processes necessary for the separation of fingers that expand beyond the insufficient removal of connective tissue. These additional factors play a key role in syndactyly and may be implicated in other complex syndromes, including Van der Woude syndrome. Epithelial migration and non-adhesive peridermis are necessary for the separation of digits during mammalian development”.

As Bogi Andersen, professor of medicine and biological chemistry and other author of the study, explains, the GRHL3 gene is responsible for normal finger separation. If there is a mutation affecting this gene, the function of cells on the surface of the skin can be impaired causing conditions such as Van der Woude syndrome related to syndactyly.