Jackson-Weiss Syndrome

What is Jackson-Weiss syndrome?

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.

How common is Jackson-Weiss syndrome?

Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.

What genes are related to Jackson-Weiss syndrome?

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.

How do people inherit Jackson-Weiss syndrome?

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.

Where can I find information about treatment for Jackson-Weiss syndrome?

These resources address the management of Jackson-Weiss syndrome and may include treatment providers.

• Gene Reviews
• MedlinePlus Encyclopedia: Craniosynostosis

You might also find information on treatment of Jackson-Weiss syndrome in Educational resources and Patient support.

Where can I find additional information about Jackson-Weiss syndrome?

You may find the following resources about Jackson-Weiss syndrome helpful. These materials are written for the general public.

• MedlinePlus - Health information (3 links)
• Additional NIH Resources - National Institutes of HealthNational Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page
• Educational resources - Information pages (4 links)
• Patient support - For patients and families (6 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals
• ClinicalTrials.gov - Linking patients to medical research
• PubMed - Recent literature
• OMIM - Genetic disorder catalog

What other names do people use for Jackson-Weiss syndrome?

• JWS

See How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Jackson-Weiss syndrome?

• See How can I find a genetics professional in my area? in the Handbook.
• Ask the Genetic and Rare Diseases Information Center.
• Submit your question to Ask the Geneticist.

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

What glossary definitions help with understanding Jackson-Weiss syndrome?

autosomal ; autosomal dominant ; cell ; craniosynostosis ; embryonic ; fibroblast ; gene ; great toe ; growth factor ; incidence ; mutation ; protein ; receptor ; syndactyly ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.