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Klippel–Feil Syndrome (KFS) is a congenital segmentation anomaly of the cervical spine, characterized by fusion of two or more cervical vertebrae, resulting from failure of normal somite segmentation during the 3rd–8th week of embryogenesis.

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Etiology

Genetic basis:

• Congenital disorder—sporadic or familial
• Associated with mutations in genes such as GDF6, GDF3, MEOX1, and PAX1
• May occur in isolation or as part of syndromic associations (e.g., VACTERL, Goldenhar syndrome)

Clinical features

Classic clinical triad (<50% of cases):

1. Short neck
2. Low posterior hairline
3. Limited neck motion

![Photograph of patient with Klippel-Feil Syndrome. A-note webbed neck and decreased range of motion secondary to fusion of the cervical spine, B-note surgical scar further restricting range of motion.

Shah TH, Badve MS, Olajide KO, Skorupan HM, Waters JH, Vallejo MC. Dexmedetomidine for an Awake Fiber-Optic Intubation of a Parturient with Klippel-Feil Syndrome, Type I Arnold Chiari Malformation and Status Post Released Tethered Spinal Cord Presenting for Repeat Cesarean Section. Clinics and Practice. 2011; 1(3):e57. https://doi.org/10.4081/cp.2011.e57](attachment:71a35260-c1f9-4fc2-a9ce-e38abc3a6cd3:e80b4672-869f-4f25-b7b9-823f9a3f5559.png)

Photograph of patient with Klippel-Feil Syndrome. A-note webbed neck and decreased range of motion secondary to fusion of the cervical spine, B-note surgical scar further restricting range of motion.

Shah TH, Badve MS, Olajide KO, Skorupan HM, Waters JH, Vallejo MC. Dexmedetomidine for an Awake Fiber-Optic Intubation of a Parturient with Klippel-Feil Syndrome, Type I Arnold Chiari Malformation and Status Post Released Tethered Spinal Cord Presenting for Repeat Cesarean Section. Clinics and Practice. 2011; 1(3):e57. https://doi.org/10.4081/cp.2011.e57

Associated Anomalies

• KFS often presents with multisystem involvement:

Complications

• Cervical spinal stenosis