Klippel Feil Syndrome

Klippel Feil Syndrome is defined as the congenital fusion of 2 or more cervical vertebrae. Eitiology and incidence are unknown. There is no known treatment.

  • Scoliosis- Up to 60% have >15 degrees curve. Winter et al discovered a 25% incidence of KFS in 1215 patients with congenital scoliosis.
  • May be associated with progressive kyphosis that may to be fused early.
  • Genito-urinary- Up to 65% have either anomaly. Most common is absence of kidney.
  • Sprengel's deformity- approx. 35%
  • Cardio-pulmonary- 5-15%, most commonly V.S.D.
  • Deafness- 30%, all types have been described.
  • Sykinesis- Mirror motions have been described in up to 20% of people. Tend to decrease after age 5 and with the aid of O.T.
  • Cranio-cervical abnormalities- Includes C1-C2 hypermobility and instability, basilar invagination, and cervical stenosis at or below the instability. Chiari I malformation, cervical dysraphism or diastematomyelia, syringomyelia and intracranial tumors have been reported. (Curcione, DO and MacKenzie, MD)


Rare Diseases

National Institute of Health