A rare inherited disorder involving bone abnormalities such as fusion of upper foot bones and premature fusion of skull bones which prevents the skull from growing normally. Symptoms can range from mild to severe.
* Fusion of upper foot bones * Premature fusion of skull bones * Abnormalities of face bones * Foot bone abnormalities * Malformed big toes * Odd skull shape * Widely-spaced eyes * Bulging forehead
Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. The FGFR2 gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells in a developing embryo and fetus. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which promotes the premature fusion of bones in the skull and feet.
Prognosis of Jackson-Weiss Syndrome: a normal life span can be expected as well as normal intelligence