Klippel-Feil syndrome (KFS)
Incidence
In most individuals with KFS, the condition appears to occur randomly for unknown reasons (sporadically). However, in other cases, KFS may be inherited as an autosomal dominant or autosomal recessive trait.
Clinical Characteristics
Klippel-Feil syndrome (KFS) is a rare condition that is evident at birth (congenital). KFS is primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline). In some individuals with KFS, the condition may be associated with additional physical abnormalities. These may include 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 some cases, neurological complications may result due to associated spinal cord injury.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Cervical spine X ray shows the abnormal vertebral fusion.