Jackson-Weiss syndrome

Jackson-Weiss syndrome describes the combination of craniosynostosis, midface hypoplasia, and foot anomalies.

The patients have widened big toes and facial dysmorphisms that are characteristic of the disease. The hands have no symptoms. The syndrome has so far only been found in two different families. It is autosomal dominant and has high penetrance with variable expressivity.

The cause of the disease is seen in mutations of the fibroblast growth factor receptor 2 (FGFR2) gene.