The deformity of the spinal vertebrae indicating congenital fusion and associated organ abnormalities in a patient indicated that the patient is suffering from the Klippel-Feil syndrome. In the year 1912, Andre Feil and Maurice Klippel in France identified this syndrome with its characteristics and thus this syndrome has been named after them. This is a very rare disease and researchers are still trying to find out the proper reason for the cause of this disease and its proper treatment procedures. However, at present, doctors have come to the conclusion that this disease is hereditary in nature and are passed on from one generation to the other.
Due to the different types of organ deformations and spinal vertebrae fusion locations, the Klippel-Feil syndrome is classified in three different categories and the treatment procedure is opted for based on these three categories. However, the craniocervical instability that is caused due to the syndrome can be relieved through surgery only. As a matter of fact, as treatment, one of the most effective procedures of treatment for this disease is surgery.
By researching various notable cases, doctors and researchers have identified that the Klippel-Feil syndrome is hereditary. The traits of this disease are passed on from parents to their children. Moreover, it has been also found that person affected from this syndrome has to acquire the genes that cause this disease from both parents. Thus, somewhere in the evolution chain, both parents must have had ancestors who have been affected by this disease and then only there lies a possibility that their child might have this disease. Researchers are also trying to find possible gene therapy to control or stop this syndrome from affecting the offspring. However, this treatment is still not possible since the researchers have not yet found any substantial elements to progress on this path.
The Klippel-Feil syndrome can turn out to be dangerous and life threatening in some patients if the disease affects kidneys and heart. Most of the life-threatening scenario occurs when the disease affects kidneys of the patients since it can cause renal failure. Opting for new kidneys may not turn out to be a viable treatment since the disease causing factors present in the body might affect the new healthy kidneys as well. Therefore, for some patients the treatment procedures can turn out to be quite difficult. Doctors and researchers are working together to come up with viable treatments and procedures that are going to ensure a healthy and long life for patients suffering from this syndrome.
