Jackson-Weiss Syndrome

National Organization for Rare Disorders, Inc.

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

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

Disorder Subdivisions

  • None

General Discussion

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

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@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
Suite 901A
New York, NY 10016
Tel: (212)684-5860
Fax: (212)684-5864
Tel: (800)393-3223
Email: camille@forwardface.org
Internet: http://www.forwardface.org

AmeriFace
PO Box 751112
Las Vegas, NV 89136
USA
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209
Email: info@ameriface.org
Internet: http://www.ameriface.org

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

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

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