Type of disease: Rare conditions
Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by specific malformations of the head and facial area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, and findings may include craniosynostosis; unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner; in some cases, it is not inherited but results from a new mutation that occurs randomly. The treatment of JWS is typically directed toward the specific symptoms that are apparent in each individual. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.