Apert syndrome is a congenital disorder characterized by malformations of the skull, face, hands and feet. Apert also has lots of other symptoms that differentiate them from the average person. It is a genetic disorder which 1 in every 70,000 inherit. This genetic disorder characterized by the premature fusion of certain skull bones known as craniosynostosis. The early fusion prevents the skull from developing and growing normally and affects the shape of the head and face. It also effects a varied number of fingers and toes that become fused together in most cases. In embryology, the hands and feet have selective cells that die called apical ectodermal ridge, which then affects the limb mesenchyme—including the zone of polarizing activity,
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That specific protein is one of four fibroblast growth factor receptors, which are related proteins that are involved in important processes. Cell division, regulation of cell growth, formation of blood vessels, the healing of wounds, and embryonic development. The positioning of the proteins outside of the cell allows the FGFR2 gene to interact with those specific growth factors outside the cell while still receiving signals that help the cell respond where it is needed to. When the growth factors and the FGFR2 protein attach, the receptors trigger chemical reactions inside the cell that instruct the cell to undergo certain necessary changes and developments to take on specialized functions. The FGFR2 protein plays a very important role in bone development, mainly during embryonic stages. In example, the protein signals the specific immature cells in the developing embryo to turn into bone cells in the head, feet, hands, and other tissues. A problem with the protein or gene causes mutations like Apert Syndrome.
The syndrome was founded in 1906, Eugene Apert, a French physician, who described nine people sharing similar attributes and characteristics and came to the conclusion of them all having the same genetic …show more content…
Most suffer from continuous positive airway pressure. Obstructive sleep apnea can be very dangerous so may wear a mask at night, attached to a small machine to help the breathing process. This small but effective machine delivers a certain pressure that keeps the victims airways open while they sleep. More severe sleep apnea sometimes requires surgical tracheostomy the placement of a breathing tube in the neck. Many antibiotics are taken throughout one’s life with Apert syndrome. Persons with this syndrome are prone to ear and sinus infections due to the misshapen facial features and connecting tissue inside the face caused by bacteria, requiring antibiotic therapy. Lastly another common procedure would be the surgical placement of ear tubes or myringotomy, for persons with repeated ear infections due to Apert syndrome and misshapen tubes inside the
That specific protein is one of four fibroblast growth factor receptors, which are related proteins that are involved in important processes. Cell division, regulation of cell growth, formation of blood vessels, the healing of wounds, and embryonic development. The positioning of the proteins outside of the cell allows the FGFR2 gene to interact with those specific growth factors outside the cell while still receiving signals that help the cell respond where it is needed to. When the growth factors and the FGFR2 protein attach, the receptors trigger chemical reactions inside the cell that instruct the cell to undergo certain necessary changes and developments to take on specialized functions. The FGFR2 protein plays a very important role in bone development, mainly during embryonic stages. In example, the protein signals the specific immature cells in the developing embryo to turn into bone cells in the head, feet, hands, and other tissues. A problem with the protein or gene causes mutations like Apert Syndrome.
The syndrome was founded in 1906, Eugene Apert, a French physician, who described nine people sharing similar attributes and characteristics and came to the conclusion of them all having the same genetic …show more content…
Most suffer from continuous positive airway pressure. Obstructive sleep apnea can be very dangerous so may wear a mask at night, attached to a small machine to help the breathing process. This small but effective machine delivers a certain pressure that keeps the victims airways open while they sleep. More severe sleep apnea sometimes requires surgical tracheostomy the placement of a breathing tube in the neck. Many antibiotics are taken throughout one’s life with Apert syndrome. Persons with this syndrome are prone to ear and sinus infections due to the misshapen facial features and connecting tissue inside the face caused by bacteria, requiring antibiotic therapy. Lastly another common procedure would be the surgical placement of ear tubes or myringotomy, for persons with repeated ear infections due to Apert syndrome and misshapen tubes inside the