Jackson-Weiss Syndrome

Important

It is possible that the main title of the report Jackson-Weiss Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

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• Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities
• Jackson-Weiss Craniosynostosis

Disorder Subdivisions

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• None

General Discussion

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Jackson-Weiss Syndrome (JWS) is a rare genetic disorder characterized by distinctive malformations of the head and facial (craniofacial) area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family (kindred). However, primary findings may include premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis); unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). In other affected individuals, the disorder may be inherited as an autosomal dominant trait.

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Resources

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Children's Craniofacial Association

13140 Coit Road

Suite 307

Dallas, TX 75240

USA

Tel: 2145709099

Fax: 2145708811

Tel: 8005353643

Email: csmith@ccakids.com

Internet: http://www.ccakids.com



FACES: The National Craniofacial Association

P.O. Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org



Forward Face, Inc.

317 East 34th Street

Room 901

New York, NY 10016

Tel: (212)684-5860

Fax: (212)684-5864

Tel: (800)393-3223

Email: info@forwardface.org

Internet: http://www.forwardface.org



AboutFace USA

PO Box 158

South Beloit, IL 61080

USA

Tel: 8884861209

Email: info@AboutFaceUSA.org

Internet: http://www.aboutfaceusa.org



National Craniofacial Foundation

3100 Carlisle Street

Suite 215

Dallas, TX 75204

Tel: (800)535-3643

For a Complete Report

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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:   5/12/2003

Copyright   1993, 1994, 2000, 2003 National Organization for Rare Disorders, Inc.