Summary
The Jackson-Weiss syndrome is characterized by tarsal and/or metatarsal coalitions and variable craniosynostosis, accompanied by facial anomalies, broad halluces and normal hands. It has been described in two large families. The condition is inherited as an autosomal dominant trait with high penetrance and variable expression. Mutations in the fibroblast growth factor receptor 2 gene (FGFR2) have been identified as the cause of this syndrome. Treatment consists of multiple-staged surgery. *Authors: G. Van Buggenhout and J.-P. Fryns (July 2005)*.
