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Jackson-Weiss Syndrome

Abstract

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Synonyms of Jackson-Weiss Syndrome

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

Disorder Subdivisions

No subdivisions found.

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.

Organizations related to Jackson-Weiss Syndrome

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