Klippel Feil Syndrome

DefinitionKlippel Feil

 

Congenital synostosis of cervical vertebrae

- refers to patients with any element of cervical spine fusion

- ranges from 2 vertebrae to whole spine

 

Classic triad 

 

1. Short neck

2. Low posterior hairline

3. Stiff neck

 

Triad present in <50%

 

Aetiology

 

Failure of normal segmentation of mesodermal somites of neck

- during 3rd to 8th week

- may be AD inheritance

 

Clinical

 

Neck

 

Stiff especially lateral movements

- usually hypermobile at unaffected levels

 

Torticollis

 

Short neck

 

Head arises from shoulders

 

Often associated with webbing of neck

 

Low posterior hairline

- on level with shoulders

 

Problems

 

Degenerative OA

- caused by hypermobility of adjacent segments

- leads to instability & degenerative OA

- presents 3rd decade

 

VECTRAL

- associated abnormalities

 

Other congenital cervical spine abnormality

- occiptiocervical synostosis

- basilar impression

- odontoid anomalies

 

Scoliosis

- 60%

- congenital type

- associated respiratory problems

- need to consider neck problems when treating scoliosis

 

Sprengel's Deformity

- 30%

- same insult that causes KF halts descent of scapulae

 

Renal

- 35%

- renal failure often occurs early

 

Deafness

- 30%

- affects development of speech & language

 

Synkinesia

- 20%

- involve paired movements of hands

- abnormal pyramidal tracts

- usually resolves

 

Cardiac

- 15%

- various congenital defects

- need preoperative investigations / echo

 

Xray

 

Vertebral fusions

 

Klippel Feil Xray

 

Thoracic abnormalities

- scoliosis

- kyphosis

 

CT scan

 

Body fusion / block vertebrae

Hemivertebrae

Flattening & widening bodies

Hypoplasic discs

Cervical spina bifida

 

Klippel Feil CT SagittalKlippel Feil CT Coronal

 

Management

 

1.  Manage associated conditions

 

Torticollis

Scoliosis 

 

2.  Neck Deformity

 

Little can be done for neck deformity

 

Avoid contact sports as sudden death & neurology reported 

- worse if small mobile segment adjacent to long fused segment