Klippel-Fiel Syndrome

KlippelFeil syndrome is a very rare disease. It was reported for the commencement ceremony time in 1912 by Maurice Klippel and Andre Feil. It has been characterized by the fusion of any 2 of the 7 cervical vertebrae. The syndrome move ons in a heterogeneous group of patients unified only by the presence of a defect in the formation or segmentation of the spine. KlippelFeil syndrome can be identified by shortness of the neck. Those with the syndrome have a very low hairline and the ability of the neck to move is limited or none.Some symptoms include ?Scoliosis, which is a side-to-side curve of the spine, which is abnormal. The spine sometimes appears as a C or an S. ?Spina bifida is when the spinal anaesthesia duct and the back bone do not close completely during birth. ?Cleft Palate, which is a hole in the roof of the mouth ?Respiratory problems ?Heart malformations ?Short stature The actual prevalence of Klippel-Feil syndrome is unknown due(p) to the fact that there was no study done to determine the true prevalence.Although the actual occurrence for the KFS syndrome is unknown, it is estimated to occur 1 in 42,000 newborns worldwide. In addition, females controlm to be touch slightly more often than males word for KlippelFeil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. The heterogeneity of this syndrome has made it difficult to outline the diagnosis as well as the prospect classes for this disease.Because of this, it has complicated the exact explanation of the genetic etiology of the syndrome. The prognosis for most individuals is good if the disorder is hardened early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to advertize damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable. Although, surgery is an option its not highly recommended.My sister suffers from this disorder therefore I see it every day. Surgery was given to my mother as an option but there were far worsened side effects to the aftermath of the surgery than just living with the disorder for the rest of her life. She didnt convey to have surgery because either it would have paralyzed her or could have possibly killed her. The disorder has affected her by not allowing her to use her neck at all, which makes it very difficult for her to do the things that we can.