Definition:
Jackson-Weiss Syndrome is a rare genetic disorder characterized by bone malformation including fusion of foot bones and premature joining together of some bones in the skull, which impedes the normal growth of the skull; thus create deformity to the face and head.
Diagnosis:
Thorough physical examination by a medical doctor is essential to verify less obvious discrepancies. X-ray is an important component in diagnosing Jackson-Weiss Syndrome. DNA testing can also be executed to confirm diagnosis based on physical features. It is also possible to test unborn babies for JWS through amniocentesis.
Treatment:
Unfortunately, there is no cure for Jackson-Weiss syndrome; however surgery is always possible if the person wants to correct terrible facial deformities.
Symptoms and Signs:
Individuals suffering from Jackson-Weiss Syndrome are easy to identify because of their bulging forehead, eyes widely-shaped, and malformed skull. However, not all persons with Jackson-Weiss Syndrome have visible malformations in the skull and face. Most of them have evident foot abnormalities characterized with enlarged toes curved away from the other toes.
Causes:
Jackson-Weiss Syndrome is a gene-related disorder; it is caused by alterations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. This gene is the source of the protein fibroblast growth factor receptor 2 that notify not fully formed cells to develop into bone cells in a developing embryo and fetus. A change in a particular part of this gene modifies the protein, preventing it to produce signals encouraging premature bone fusion in the feet and skull.
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