May 30, 2024

Klippel Feil syndrome is a heterogeneous group characterized by the presence of a congenital defect in the formation or segmentation of the cervical spine that results in restriction of neck motion and neurological phenomena.

Associated abnormalities

  • Congenital scoliosis (Most common)
  • Rib abnormalities
  • Sprengel’s syndrome
  • Deafness
  • Synkinesia
  • Genitourinary
  • Cardiovascular abnormalities

Incidence: 1: 40000 birth

Pathology

Several contiguous/ non-contiguous vertebrae fused

Shortening of the spine (cervical region)

Two vertebrae are joined by one spinous process and bodies

(If not joined by bony fusion:- Separated by vestigial disc)

Articular process: Nonexistence and intervertebral foramina:- Narrowing (encroach nerve roots)

Scoliosis, Kyphosis, and torticollis occur

Features of Klippel Feil syndrome
Features of Klippel Feil syndrome

Clinical Features of Klippel Feil syndrome

  • Low hair line
  • Short neck (Giving webbed appearances)
  • Limited neck motion
  • Neurological signs and symptoms

Nerve roots may be compressed by osseous malformation, scoliosis, kyphosis, and torticollis leading to signs of peripheral nerve irritation: Pain, burning sensation, and cramps

Hypoesthesia, anesthesia, weakness, paralysis, fibrillation and decrease deep reflexs

If the spinal cord is itself involved: Lower extremities show UMN signs

Fiel Classification

TypesFeatures
IBlock fusion of all cervical vertebrae and upper thoracic vertebrae
IIFusion of one or two pairs of cervical vertebrae
IIICervical fusion in combination with lower thoracic and lumbar fusion
Fiel Classification

Imaging Studies

  • Two or more vertebrae fused and deformed vertebrae
  • Oblique views: Absence of articulation and inadequacy of neural foramina
  • Should have imaging of thoracic and lumbosacral spine to look for other spinal anomalies, to monitor the development of scoliosis

MRI/CT

Determine compromise to brain

Treatment Options for Klippel Feil Syndrome

Early urological, cardiac, audiometric, and otologic evaluation is indicated in children

Many are asymptomatic: require no treatment

Symptoms are finding of nerve root irritation, (particularly in mid to short duration)

Relieved by traction and immobilization by cast and collar

Neurological phenomena: Not responding to conservative treatment

Decompression of the spinal cord/ Roots

Indication for surgery

  1. Instability of the cervical spine
  2. Neurological problems
  3. Persistent pain
  4. Progressive deformity

See also: Marfan Syndrome