The Klippel-Feil Syndrome (KFS)

Summary: KFS or Klippel-Feil Syndrome is characterized by congenital musculo-skeletal deformities with multiple disability of body as well as brain in addition to multiple variations of body involvements. Some features may resemble many Psychological and/or Neurodevelopmental disabilities like CP.  This a relatively very rare disorder, and we at UDAAN have not handled any such fully diagnosed case till date. Last updated January 21, 2007

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UDAAN received a query on KFS, one of a group of congenital musculo-skeletal deformities with multiple disability of body as well as brain. This page is a summary of the answer sent to the mother of the affected child.


KFS, described by Klippel and Feil in 1912, comprises three characteristic deformities: a short neck, a low dorsal hairline, restricted neck mobility. It may be associated with variants of cerebral palsy, mental retardation, and a wide variety of other physical deformities.

It is the result of synostosis (joining) of several cervical (neck) vertebrae, which may or may not be deformed. Other associated abnormalities reported include those related to urological (urinary system), neurological (brain and spinal cord) , cardiopulmonary (heart and lung) and locomotor (bone and joints including muscles and tendons) deformities, which significantly increase the morbidity.


There is a hypothesis that KFS could be the result of an interruption of the early embryonic blood supply in the subclavian (shoulder) arteries, the vertebral (neck) arteries and/or their branches. It is supposed that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects.

Variants and Complications

Variuos workers have collected different series of disabilities and deformities associated with KFS.

Radiological (X-ray) abnormalities of the cervical spine

Regional abnormalities:

Other orthopedic (bone related) deformities include:

Other disabilities

Similar disorders

KFS syndrome is somewhat similar to other birth deformities like Wilderwanck syndrome and Goldenhar.


A multidisciplinary approach and treatment are therefore required. These include:

Corrective surgery,

Other surgeries that may be needed

Medical Therapy

There is no specific medical therapy. However, individual cases may suffer from epilepsy, spastic / atonic muscles, physical and behavioral developmental defects. These will require specific anti-epileptic drugs, physiotherapy, behavioral modification and social rehabilitation at specific centers. KFS is many folds less understood than even Cerebral palsy. It is therefore essential for every state/district to have interested groups of guardians coming together to build up their own voluntary associations for mutual guidance.


The above details have been abstracted from the following sources:

  1. The so-called Klippel-Feil syndrome and its orthopedic incidences [French] by Chaumien JP et al; Rev Chir Orthop Reparatrice Appar Mot, 1990, 76:1, 30-8
  2. Klippel-Feil syndrome. An unusual association with Sprengel deformity, omovertebral bone, and other skeletal, hematologic, and respiratory disorders. A case report. [English] by Greenspan A et al; Bull Hosp Jt Dis Orthop Inst, 1991 Spring, 51:1, 54-62
  3. Klippel-Feil syndrome with conductive deafness and histological findings of removed stapes. [English] by Sakai M et al; Ann Otol Rhinol Laryngol, 1983 Mar-Apr, 92:2 Pt 1, 202-6
  4. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. [English] by Bavinck JN et al; Am J Med Genet, 1986 Apr, 23:4, 903-18
  5. The Klippel-Feil syndrome: a constellation of deformities. [English] by Van Kerckhoven MF et al; Acta Orthop Belg, 1989, 55:2, 107-18

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