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Apert syndrome is a disorder that results in early fusion of the skill bones (also known as craniosynostosis). When the skull bones fuse too early, the skull cannot grow normally, so the shape of the face and head are altered. The National Institutes of Health Genetics Home Reference reports that this condition affects 1 in 65,000 to 1 in 88,000 newborns.
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Apert Syndrome Features
People with Apert syndrome experience fused fingers, fused toes and a facial structure that looks abnormal. The face appears sunken, the eyes are very wide-set, the nose is beaked, and the jaw does not develop properly. Due to improper development of the jaw, people with this condition often experience crowding of the teeth and other problems. The failure of the skull to grow normally also causes the eye sockets to be very shallow. This leads to vision problems. Learning and development are disrupted when the brain's development is altered by early skull bone fusion. People with this condition can also have hearing loss, severe acne, oily skin, extra fingers and toes, and chronic ear infections.
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This disorder is caused by mutations of the FGFR2 gene. This gene is responsible for producing a protein that stimulates the growth of immature bone cells during the development of an embryo. The gene mutation that causes Apert syndrome alters this protein and lengthens the signaling period. This can cause the bones in the head, feet, and hands to fuse too early. Most cases of this condition are the result of spontaneous gene mutations, occurring in people who do not have a family history of Apert syndrome. Apert International reports that someone with this disorder has a 50 percent chance of passing it to a child.
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Apert Syndrome Life Expectancy
Anyone who has this condition may be concerned about Apert syndrome life expectancy. Emory University indicates that the life expectancy of someone with this condition is normal. Complications caused by this condition, however, could create life-threatening health issues. For example, sleep apnea may be associated with Apert syndrome. Sleep apnea causes a person to stop breathing during sleep, which can lead to headaches, daytime sleepiness, and other problems. If a person is unable to wake up and start breathing normally during an apnea episode, death can occur.
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NIH Genetics Home Reference. "Apert Syndrome."
Apert International, Inc. "What is Apert Syndrome?"
Emory University. Ask the Geneticist. "Syndromes and Apert Syndrome."