The dens fits into a groove in the C1 bone, or atlas, and it enables your head and neck to move properly. Chiari Malformation and Syringomyelia Chiari malformation occurs when the bottom part of the cerebellum moves outside of its normal location by dipping through the opening in the occipital bone and entering the top part of the spinal canal.
For autosomal dominant inheritance the risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. In this case, you may not require any treatment. Your doctor may recommend avoiding contact sports or other high-impact activities, which may worsen compression. During the early fetal stages, the majority of the skeleton is made of cartilage.
Genetics and inheritance KFS can occur as an isolated anomaly or as part of another syndrome. Courtesy of WikipediaKlippel-Feil syndrome is associated with other spine and bone disorders, including scoliosis which is present in more than half of those affected and atlantoaxial instability. When dislocation or subluxation partial dislocation occurs at the atlas and axis, they become misaligned.
Feil subsequently classified the syndrome into 3 categories: The disorder is characterized by KFS; hearing impairment due to failed transmission of sound impulses from the inner ear to the brain sensorineural deafness ; and a condition known as Duane syndrome in which there are abnormalities of certain eye ocular movements. Historically, KFS was associated with a classic triad of symptoms, specifically abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head posterior hairline.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. There are 4 types of Chiari malformation, which have different causes and treatment options. Klippel-Feil Syndrome KFS Image coming soon Klippel-Feil syndrome KFS is a rare musculo-skeletal genetic disorder primarily characterised by the failure of spinal bones vertebrae in the neck cervical region of the spine to divide as they usually would during early fetal development within the first 12 weeks of pregnancy. Treatment Treatment for individuals with KFS aims to provide relief from any symptoms and supportive care.
However, researchers have determined that these symptoms may define one class of KFS, which accounts for less than 50 percent of affected individuals. Causes In most individuals with KFS, the condition appears to occur randomly for unknown reasons sporadically.
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In addition to the fusion of certain vertebrae, KFS can be associated with a wide variety of additional anomalies affecting many different organ systems of the body. View Sources Arnold Chiari Malformation. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.
In other cases, KFS may be inherited as an autosomal dominant or autosomal recessive trait. Keeping regular appointments with your medical team will help ensure that any problems are detected early, giving you the best chance for treatment success. However, in other cases, familial patterns have been reported that indicate autosomal dominant or autosomal recessive inheritance.
Some guys of KFS have been hand that seem to dwell autosomal contact inheritance. Os Odontoideum Achondroplasia If you would occasionally to fasten about upper taking players that develop so in fastidious, read Acquired Upper Extra Disorders. National Youngster of Medicine.
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Some individuals may also have kidney renal defects, such as underdevelopment hypoplasia or absence agenesis of one or both kidneys; abnormal renal rotation or placement ectopia ; or swelling of the kidneys with urine hydronephrosis due to blockage or narrowing of the tubes ureters that carry urine to the bladder. For example, unfused vertebral segments adjacent to fused cervical vertebrae may be abnormally mobile hypermobile , making them vulnerable to increased stress, which in turn may lead to vertebral instability or degenerative changes.