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
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
| Types | Features |
|---|---|
| I | Block fusion of all cervical vertebrae and upper thoracic vertebrae |
| II | Fusion of one or two pairs of cervical vertebrae |
| III | Cervical fusion in combination with lower thoracic and lumbar fusion |
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
- Instability of the cervical spine
- Neurological problems
- Persistent pain
- Progressive deformity
See also: Marfan Syndrome
