Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.
Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The great toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.
People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.
Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.
Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet.
Read more about the FGFR2 gene.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
These resources address the management of Jackson-Weiss syndrome and may include treatment providers.
You might also find information on treatment of Jackson-Weiss syndrome in
Educational resources and Patient support.
You may find the following resources about Jackson-Weiss syndrome helpful. These materials are written for the general public.
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- Additional NIH Resources - National Institutes of Health
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You may also be interested in these resources, which are designed for healthcare professionals and researchers.
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.