Klippel Feil Syndrome

Klippel-Feil Syndrome is present since birth (congenital). It is a rare disorder characterized by the coming together (fusion) of any 2 of the 7 neck (cervical) vertebrae.

CAUSES

It is caused by a failure of the cervical vertebrae to divide during the early weeks of fetal development.

SYMPTOMS

The most common signs of the disorder are:

  • Short neck.

  • Low hairline at the back of the head.

  • Restricted mobility of the upper spine.

Other symptoms may include:

  • Scoliosis (curvature of the spine).

  • Spina bifida (a birth defect of the spine).

  • Anomalies of the kidneys and the ribs.

  • Cleft palate.

  • Breathing problems.

  • Heart malformations.

The disorder also may be associated with abnormalities of the:

  • Head and face.

  • Skeleton.

  • Sex organs.

  • Muscles.

  • Brain and spinal cord.

  • Arms, legs, and fingers.

TREATMENT

Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.