Klippel-Feil is a congenital disorder characterized because there is a vertebra in the cervical spine fusion (two or more). It can be associated with other pathologies of the spine and malformations in organs and systems of the body. This syndrome is so named because two French doctors called one Klippel and the other Feil in 1912 described it for the first time.
This syndrome actually brings together people with very different problems that have in common this fusion of neck vertebrae. The origin of this malformation is not known. As we have mentioned, not all patients who have this syndrome are the same. Many people will have fusion of two vertebrae without giving them any problem. They only find out that they have this Klippel Feil syndrome when they take an x-ray for another reason.
At other times, this congenital defect is linked to other problems:
– In the spine it may be associated with scoliosis, craniocervical abnormalities, atloaxoid instability, spinal stenosis, diastematomyelia and dysraphism. Depending on the anatomical alteration, these patients may be more fragile due to trauma and have a higher risk of serious complications such as spinal cord injury.
– As for organs and devices can be associated with cardiac malformations, genitourinary, renal agenesis, cleft palate, hearing problems, Sprengel and limb malformations.
It is most often associated with scoliosis. Scoliosis, as you know from other posts, is a deformity of the spine. A defect in the formation of a vertebral segment creates asymmetries that cause a scoliosis to form, so it is associated with a certain frequency. The rest of the malformations are more occasional and there is very reliable data on how often they are seen.
Fusion of cervical vertebrae (Klippel-Feil)What does this all mean? Imagine that after a blow we have an x-ray of the neck and we discover that we have a fusion of cervical vertebrae. By itself it means almost nothing. The doctor forces him to look at the possibility that some of the associated problems are present, but they are unlikely when the diagnosis is incidental. From the patient’s point of view, if there are no associated lesions and the cervical spine has no problems associated with this fusion, there is no need to worry. Really the biggest problems come from the other injuries, so these patients will be diagnosed before and will not be a casual find as we recreated.
If I have a fusion of vertebrae with the diagnosis of Klippel-Feil syndrome, do I have to do something?
There are some theoretical problems that need to be known if this lesion is detected. There are studies suggesting that these patients are at increased risk of neurological injury due to trauma. In this sense our doctor will value our particular situation and this may not apply to our case although it is generally recommended to protect against trauma. In this sense, it is advisable to perform a dynamic x-ray (in flexion and extension) to assess if there is hypermobility in any segment that can increase the risks for the patient. On the other hand, there may also be more difficulties to perform an intubation in these people by the limitation of mobility and alteration of the anatomy.