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Genetics Home Reference: your guide to understanding genetic conditions
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Jackson-Weiss syndrome

Reviewed February 2008

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 first (big) 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.

Related Gene(s)

Changes in this gene are associated with Jackson-Weiss syndrome.

  • FGFR2

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 diagnosis or management of Jackson-Weiss syndrome?

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

  • Gene Review: FGFR-Related Craniosynostosis Syndromes (http://www.ncbi.nlm.nih.gov/books/NBK1455)
  • Genetic Testing Registry: Jackson-Weiss syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0795998)
  • MedlinePlus Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)

You might also find information on the diagnosis or management of Jackson-Weiss syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/jackson-weiss-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/jackson-weiss-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

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.

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

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

  • JWS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Jackson-Weiss syndrome?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15769677?dopt=Abstract)
  • Cohen MM Jr. Jackson-Weiss syndrome. Am J Med Genet. 2001 May 15;100(4):325-9. (http://www.ncbi.nlm.nih.gov/pubmed/11343324?dopt=Abstract)
  • Gene Review: FGFR-Related Craniosynostosis Syndromes (http://www.ncbi.nlm.nih.gov/books/NBK1455)
  • Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M. Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred. Am J Med Genet. 2001 May 15;100(4):315-24. (http://www.ncbi.nlm.nih.gov/pubmed/11343323?dopt=Abstract)
  • Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9. Erratum in: Nat Genet 1995 Apr;9(4):451. (http://www.ncbi.nlm.nih.gov/pubmed/7874170?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: December 16, 2014