Apert Syndrome

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Apert syndrome is a rare genetic disorder characterized by distinctive malformations to the head and facial features. In addition to head malformation, symptoms may include but are not limited to webbed (syndactyly) hands and/or feet, mental retardation, decrease in rate of growth, pointed and broad forehead, hearing loss and chronic ear infections. Most cases of Apert syndrome are the result of genetic mutations to a gene known as fibroblast growth factor receptor-2 (FGFR2). While Apert Syndrome has no known cure, some affected individuals may choose to have surgery to correct the abnormal connections between bones.

Many organizations exist to support individuals with rare disorders like Apert syndrome and raise money to support research efforts. Information provided in part by our partner NORD.

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