Klippel-Feil Syndrome

General Information

Description:

  • Congenital segmentation defect of cervical spine
  • Classic triad
    • Short neck
    • Low posterior hairline
    • Limited range of motion of neck

 

Organs involved:

  • Cervical spine

Incidence/Prevalence:

  • 1:40,000-1:42,000 births, slightly more common in females


Causes & Risk Factor

Causes:

  • Failure of segmentation or failure of formation of 1 or more vertebral bodies in cervical spine

Complications & Associated Conditions

Complications:

  • Narrowing of cervical canal and atlantoaxial ligamentous laxity predisposes to neurologic injury
  • Torticollis
    • Klippel-Feil syndrome underlying cause in 16 of 288 pediatric patients in one series
    • Reference – J Pediatr Orthop 1996 Jul-Aug;16(4):500

Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether Klippel–Feil syndrome is a discrete entity, or if it is one point on a spectrum of congenital spinal deformities. Klippel-Feil syndrome can sometimes be diagnosed before birth but usually after birth.

Associated conditions:

Reported associated conditions include

  • Congenital scoliosis
  • Rib abnormalities
  • Deafness
  • Genitourinary abnormalities
  • Cervical ribs
  • Congenital abnormalities of scapula (Sprengel’s deformity)
  • Cardiovascular abnormalities
  • Scoliosis (side-to-side curvature of the spine), which is abnormal curving of the spine. The spine sometimes appears as a “C” or an “S”.
  • Spina bifida, when the spinal canal and the back bone do not close completely during birth.
  • Anomalies of the kidneys
  • Cleft palate(hole in the roof of the mouth),
  • Respiratory problems,
  • Short stature
  • Duane syndrome

The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, fingers and heart defects. These heart defects almost always lead to stunted ages in patients, the average being 35-45 years of age among males and 40-50 among women. This condition is similar to the heart failure seen in gigantism.

History & Physical

History:

Chief concern (CC):
  • Usually asymptomatic in childhood
  • Often presents later in life with decreased range of motion and musculoskeletal pain

 

Physical:

Neck:
  • Short neck,
  • Limited range of motion
  • Low posterior hairline
 
Neuro:
  • May have spasticity of lower extremities, weakness of upper extremities (if associated cervical canal stenosis)