Synonyms: congenital cervical synostosis
Definition
The so-called Klippel-Feil Syndrome describes a congenital malformation that mainly affects the cervical spine. The main characteristic is an adhesion of cervical vertebrae, which can be accompanied by other malformations. The Klippel-Feil syndrome was first fully described in 1912 by Maurice Klippel, a French neurologist and psychiatrist, and André Feil, also a French neurologist, and was also named after them. The frequency with which this syndrome occurs is given as 1:50000, making it one of the rarer diseases.
Causes
The cause of this disease already lies in early pregnancy, when certain tissue parts of the embryo, the so-called cervical somites, do not mature properly or do not develop as usual. Why this developmental disorder occurs in the first place is still not understood. The expression of this syndrome is extremely variable and can be completely harmless and hardly visible or it can be accompanied by severe malformations.
The Klippel-Feil syndrome is characterized by the fusion of two or more vertebral bodies of the neck. In some cases, the entire cervical spine may even be fused together. Also characteristic are a deep hairline and, as a result of the vertebral fusion, a very short neck with neck stiffening and a malposition of the head, a torticollis osseus.
These typical clinical signs, however, are found in only 34-74% of patients, as the range of motion is often well preserved. The bony adhesions can lead to complaints, depending on their severity. The mobility of the cervical spine may be severely restricted.
However, the lack of mobility is partially compensated by other vertebral joints located between, above or below the adhesions, which are then often overly mobile. However, this also means that the relevant over-mobile spinal regions are less well stabilized, which can lead to serious problems in these areas, such as an injury to the spinal cord in the cervical region, instability, or spondylarthrosis (degenerative changes in the vertebral arch joints). If the first cervical spine joint is fused between the skull bone and the so-called atlas bone, this malformation causes more frequent complaints than with lower-lying joints.
