Jackson-Weiss syndrome

Jackson-Weiss syndrome (JWS) is a rare genetic condition. It mainly affects the feet, where tarsal and metatarsal fusions lead to foot malformations, such as short, broad, and medially deviated great toes. In some cases, people with this condition also have craniosynostosis, which is the early fusion of skull bones, and other facial anomalies. Despite these differences, the hands are typically normal.

Common signs of Jackson-Weiss syndrome include foot abnormalities like fused tarsal and metatarsal bones along with short and broad great toes. Some people may also experience craniosynostosis and accompanying facial differences. The hands remain unaffected in this condition.

Jackson-Weiss syndrome is caused by genetic changes. Variants in the FGFR1 and FGFR2 genes have been linked to this condition. As a genetic disorder, changes in these genes lead to the bone and facial differences seen in people with JWS.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.