User:Aekong2011/sandbox
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Apert Syndrome, also known as acrocephalosyndactly (ak″ro-sef″ah-lo″sin-dak´tĭ-le) or "acrocephaly" (deformity of head) and "syndactaly" (webbed fingers and toes), is a rare genetic disorder that is caused by a premature fusion of skull bones. Its key features include a distinct malformation of the head and webbed hands and/or feet. The disorder is apparent at birth, with findings of incidence of occurrence ranging from an estimated 1 of every 65,000 to 1 out of every 160,000 live births. It has no sex preference between male or female and it is detected in the newborn prior to craniostinosis and syndactly.[1] Almost all cases of Apert Syndrome are causes by new cases of genetic mutations, but in rare cases, Apert Syndrome can be inherited as an autosomal dominant trait with a sporadic cause.
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In Apert Syndrome, the pressure of continued brain growth distorts various bones of the skull and face into various categorizable shapes.The shape of the head is often formed in a manner that is pointed at the top, with a sunken appearance in the middle of the face, bulging and wide-set eyes and a nose that is beaked shape and an underdeveloped jaw. These deformities are caused by the skulls inability to grow properly due to a premature fusion in the skull bones.The cause of Apert Syndrome is a rare mutation that occurs on a single gene, FGFR2, which normally guides the bones of the skull to fuse together at the right time. In the case of Apert syndrome, the mutation causes a premature fusion of skull bones resulting in the various symptoms associated with Apert Syndrome.