Klippel-Feil Syndrome

Key Features

• Characterized by failure of segmentation of some or all of the cervical vertebrae

• Multiple congenital spinal anomalies may be present, with hemivertebrae and scoliosis among the most common presentations

Clinical Findings

• Short and stiff neck

• Low hairline

• Low set ears

• Associated defects

  • Cervical rib

  • Spina bifida

  • Torticollis

  • Web neck

  • High scapula

  • Renal anomalies

  • Deafness

Diagnosis

• Renal ultrasound

• Hearing test

Treatment

• Surgical intervention is necessary to prevent neurologic injury in symptomatic patients with unstable spinal anomalies

• If asymptomatic, a spine surgeon will determine if surgical intervention is warranted after review of patient's age, history, and activity level

• Spinal arthrodesis is indicated if progressive scoliotic deformities develop