Klippel-Fiel Syndrome

KlippelFeil syndrome is a very rare disease. It was reported for the first sequence 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 occurs in a heterogeneous group of patients unified all 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 befool a very low hairline and the ability of the neck to move is special 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 distribution channel and the back bone do not close completely during birth. ? fissure Palate, which is a hole in the roof of the mouth ?Respiratory problems ? warmth malformations ?Short stature The real(a) prevalence of Klippel-Feil syndrome is unknown due to the event that there was no study d one 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 seem to be affected slightly more often than males Treatment for KlippelFeil syndrome is symptomatic and whitethorn include operating room to relieve cervical or craniocervical instability and minginess 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 prognosis classes for this disease.Beca handling of this, it has complicated the exact news report of the genetic etiology of the syndrome. The prognosis for most individuals is good if the disorder is toughened early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be dark if not treated, or if found too late to be treatable. Although, surgery is a n option its not highly recommended.My sister suffers from this disorder hence I see it every day. Surgery was given to my mother as an option but there were far worse side do to the aftermath of the surgery than just living with the disorder for the rest of her life. She didnt choose 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.