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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 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.

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?

You may find information on treatment or management of Jackson-Weiss syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, 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
    • Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)
    • Health Topic: Facial Injuries and Disorders (http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html)
    • Health Topic: Head and Brain Malformations (http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page (http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm)
  • Educational resources - Information pages
    • Ask the Geneticist: Inheritance of Jackson-Weiss syndrome (http://www.genetics.emory.edu/ask/question.php?question_id=584)
    • Collaboration for Craniofacial Development and Disorders, Johns Hopkins University (http://www.hopkinsmedicine.org/craniofacial/Education/DefinedArticle.cfm?MUArticleID=107&Source=Family)
    • Orphanet: Craniosynostosis (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1531)
    • Orphanet: Jackson-Weiss syndrome (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1540)
  • Patient support - For patients and families
    • AboutFace USA (http://www.aboutfaceusa.org/)
    • Children's Craniofacial Association (http://www.ccakids.com)
    • Family Village (http://www.familyvillage.wisc.edu/lib_cran.htm)
    • Let's Face It (http://www.dent.umich.edu/faceit/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Jackson-Weiss+Syndrome)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/craniofa.html)

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

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2760)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22Jackson-Weiss+syndrome%22+OR+%22Craniosynostoses%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(jackson-weiss+syndrome[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=3600+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123150)

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

  • JWS

See 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?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

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 (http://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. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15769677)
  • Cohen MM Jr. Jackson-Weiss syndrome. Am J Med Genet. 2001 May 15;100(4):325-9. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11343324)
  • Gene Reviews (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11343323)
  • 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. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=7874170)

 

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: May 11, 2009