Klippel Feil syndrome has been organized into three basic types.
Klippel-Feil syndrome (KFS) is a rare disorder caused by failure of the division of the bones in the cervical (neck) section of the spinal column during embryonic development. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Patients with Klippel-Feil commonly have associated congenital anomalies such as scoliosis, kidney disease, and Sprengel's deformity.
In several individuals with KFS, the condition may be related with additional physical abnormalities. These may comprise abnormal curvature of the spine (scoliosis), rib defects, or other skeletal abnormalities; hearing impairment; certain malformations of the head and facial (craniofacial) area; or structural abnormalities of the heart (congenital heart defects). In addition, in several cases, neurological complications may effect due to associated spinal cord injury. In type I, all of the cervical and upper thoracic vertebrae are fused together into one block.
In type II, one or two pairs of cervical vertebrae are fused together. In type III, there is lower thoracic or lumbar fusion as well as cervical fusion. This condition is painless, but typically, the child presents with a short stiff neck and low posterior hairline. Treatment for Klippel-Feil Syndrome is symptomatic. More mildly affected individuals will require no treatment. Other individuals may need surgery to improve cervical stability, correct scoliosis, and improve any constriction of the spinal cord. Physical therapy may also be useful. Physical therapy can be very helpful in order to improve strength and mobility.
Avoidance of trauma is important. A person with no neck may seem an ideal candidate for the front row of a scrum but this would be extremely dangerous. For mechanical symptoms, cervical collar, analgesics, NSAIDS, or careful traction can be used. Dislocations and basilar invagination are treated by careful traction followed by posterior fusion. Occupational therapy can aid more severely restricted individuals learn how to best perform activities of every day living, despite the limitations of their condition. Where hearing is impaired, appropriate intervention is required. Genetic counseling may be required.
