< Previous | Next >

Jackson Weiss Syndrome

Visit Resource Review It Rate It Bookmark It

Location: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Jackson-Weiss%20Syndrome

Description: Craniofacial abnormalities. Broad great toes. 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.

Type: Reference Material
Author/Contact: Not Available
Institution: NORD
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 599
Added: Sat Jul 16 2005
Last Modified: Mon Nov 12 2007