Jackson-Weiss Disease

by 2000kzkz
Last updated 6 years ago

Health & Fitness

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Jackson-Weiss Disease

What is Jackon-Weiss Syndrome?Jackson-Weiss Syndrome is a genetic disorder that causes bones to fuse together earlier. A mutation in the FGFR2 gene causes a cue to be sent to the FGFR2 protein, beginning the development of feet and the fusing of skull bones before the appointed time. This prohibits the skull from forming normally and alters the shape of the head. It also modifies the feet, some being fused together or bent in directions that are unusual.

How Do You Inherit Jackson-Weiss Syndrome?Autosomal Dominant Pattern. Only one affected gene from one parent is needed for the offspring to have the disease.

How Is It Identified?Found by looking at foot abnormalities and other changes with the skull. Symptoms of the Diseasemisshapen skull - widely spaced eyes - bulging forehead - unusually flat, underdeveloped middle area of the face - the big toes are short and wide - the big toes also bend away from the other toes - the bones of some toes may be fused together or abnormally shaped

Jackson-Weiss Syndrome

FGFR2 Gene on Chromosome 10

Medical Issues Caused by Jackson-Weiss SyndromeCraniosynostosis (issue with skull growth) and Midline Facial DefectsTreatments and CuresThere is no cure for the disease. There are very little treatments for the defects that happen. Minimal surgery may be required.Gene That Causes the SyndromeFGFR2 Gene

Chromsome 10 is now ring instead of normal

StatisticsThere are no published statistics, due to the disease being so rare. Only a few dozen cases have been confirmed.


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