Klippel–Feil syndrome

Klippel–Feil syndrome is a congenital condition in which two or more cervical vertebrae are fused. It can restrict neck movement and occur with abnormalities in other body systems.

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Cervical vertebrae: The seven vertebrae forming the neck portion of the spine. These are the bones fused in the syndrome.
Congenital scoliosis: A spinal curvature present at birth caused by abnormal vertebral formation or segmentation. It is a relevant spinal deformity to assess alongside vertebral fusion.
Maurice Klippel: A French neurologist who co-described the congenital cervical vertebral fusion syndrome in 1912. His name became part of the syndrome’s eponym.
Cervical spondylosis: Age-related degeneration of the discs and joints in the cervical spine. Unlike Klippel–Feil syndrome, it develops through degeneration rather than congenital vertebral segmentation.
Hearing loss: Partial or complete reduction in the ability to hear. Hearing impairment is a recognized associated finding and may require assessment.
Congenital vertebral fusion: A birth-present union of two or more vertebrae caused by incomplete separation during development. It describes the defining structural finding in Klippel–Feil syndrome.
Sprengel deformity: A congenital elevation of one scapula caused by its incomplete descent during development. This shoulder-girdle anomaly can accompany Klippel–Feil syndrome.
André Feil: A French physician who described a series of patients with congenital cervical vertebral fusion in 1919. His clinical account established the other half of the syndrome’s eponym.
Ankylosing spondylitis: A chronic inflammatory disease that can cause spinal and sacroiliac joint fusion. It can also restrict spinal motion, but its cause and pattern differ from congenital cervical fusion.
Congenital heart defect: A structural abnormality of the heart or its major blood vessels present at birth. Cardiac abnormalities can accompany Klippel–Feil syndrome and affect clinical evaluation.