By: Jozie Arenz
What is Apert Syndrome?
Apert Syndrome, or AS, is a genetic disorder that causes premature bone fusion, resulting in abnormal growth. This condition affects the shape of your head and face.
E. Apert, a French physician, first reported this syndrome in 1906. He discovered the symptoms and different abnormalities that comes with this genetic disorder.
Researchers have found that most of the time, AS is sporadic and the parents are not affected. It is a new mutation in the gene that causes the offspring to be affected. An affected parent has a 50% chance of passing down this condition to their child. Further research was done, and it was found out that the father who passed on this trait was usually over 30 years of age. No explanation has been found for this strange finding. Genetic researchers noted that one mutation (of the two that were found in the FGFR2 gene) resulted in a much more improved facial appearance after corrective surgery. The other mutation produced a more severe form of syndactyly (having fingers and toes fused together).
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