EVERYTHING YOU NEED TO KNOW
On this page, you can find everything you need to know about Apert Syndrome: the symptoms, the chromosomes involved, the type of genetic mutation, and the history.
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On this page, you can find everything you need to know about Apert Syndrome: the symptoms, the chromosomes involved, the type of genetic mutation, and the history.
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Internal symptoms-
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External symptoms-
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CHROMOSOMES
Apert syndrome is caused by mutations in the FGFR2 gene, located on chromosome 10q26.13. The gene creates a protein called Fibroblast Growth Factor Receptor 2 (protein FGFR2). During embryonic development, this protein sends signals to immature cells, telling them to become bone cells. The mutations cause prolonged signaling, and can result in early fusion of bones in the skull, hands, and feet, which are symptoms of Apert Syndrome. |
I suggest the name, acrocephalosyndactyly to designate a type of teratology compatible with life and strongly characterized by the coexistence of the two following particularities: First, a high skull flattened in the back and sometimes at the sides, bulging on the opposite side to an exaggerated facet in the superior frontal region; second, syndactyly of the four extremities." |