Jackson-Weiss syndrome

Common Name(s)

Jackson-Weiss syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jackson-Weiss syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Jackson-Weiss syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.
 

Author(s): L van Herwerden, C S Rose, W Reardon, L A Brueton, J Weissenbach, S Malcolm, R M Winter

Journal: Am. J. Hum. Genet.. 1994 Apr;54(4):669-74.

 

Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to chromosome ...

Last Updated: 13 Apr 1994

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Reviews from the PubMed Database

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The terms "Jackson-Weiss syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.