Jackson-Weiss syndrome

Jackson-Weiss syndrome (JWS) is a rare genetic disorder belonging to the group of craniosynostosis syndromes caused by mutations in the FGFR2 (fibroblast growth factor receptor 2) gene located on chromosome 10q26. It was first described in a large Amish kindred in 1976. The condition is characterized by the premature fusion of certain skull bones (craniosynostosis) and foot abnormalities. The hallmark features include abnormally shaped skull due to craniosynostosis, broad great toes with medial deviation, and tarsal-metatarsal fusion in the feet. Unlike some related craniosynostosis syndromes such as Crouzon or Apert syndrome, Jackson-Weiss syndrome typically does not involve significant hand abnormalities. The craniofacial features can vary considerably, even within the same family. Some individuals may have midface hypoplasia (underdevelopment of the middle portion of the face), widely spaced eyes (hypertelorism), and a prominent forehead. The foot abnormalities are a distinguishing feature and include short, broad, medially deviated great toes, calcaneocuboid fusion, and other tarsal coalitions. Intelligence is typically normal in affected individuals. Treatment for Jackson-Weiss syndrome is symptomatic and may involve surgical intervention to correct craniosynostosis if it causes increased intracranial pressure or significant cosmetic concerns. Craniofacial surgery may be performed in infancy or early childhood. Orthopedic evaluation and management may be needed for foot abnormalities if they cause functional impairment. A multidisciplinary approach involving craniofacial surgeons, ophthalmologists, and orthopedic specialists is recommended for optimal management. Genetic counseling is important for affected families given the autosomal dominant inheritance pattern.

Common questions about Jackson-Weiss syndrome