Klippel Feil syndrome

Epidemiology

• rare

Pathology

• congenital fusion of any 2 of the 7 cervical vertebrae
• failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development
• inconsistent features
  • spina bifida
  • anomalies of the kidneys
  • rib deformity
  • cleft palate
  • heart malformations
  • abnormalities of the head & face, skeleton, genitalia, muscles, brain & spinal cord, arms, legs, & fingers

Clinical manifestations

• short neck
• low hairline at the back of the head
• restricted mobility of the upper spine
• scoliosis
• respiratory problems may occur

Management

• treatment is symptomatic
• surgery to relieve cervical or craniocervical instability & constriction of the spinal cord, & to correct scoliosis
• physical therapy may be useful
• prognosis is good if the disorder is treated early
• avoid activities that can injure the neck

Additional terms

• Klippel-Trenaunay-Weber syndrome

Patient information

Klippel Feil syndrome patient information