Klippel Feil Syndrome

Dr. Ira Shah
Consultant Pediatrician, B.J.Wadia Hospital for Children, Mumbai, India
First Created: 05/07/2001  Last Updated: 08/01/2015

Patient Education

What is Klippel Feil Syndrome?

Klippel Feil syndrome is a syndrome that leads to a fusion of at least 2 of the seven vertebrae in the cervical spine. This defect is right from birth. In addition, patients may have a fusion of the vertebrae in the thoracic or lumbar spine. Patients present with a short neck, reduced range of movement of the neck, and a low hairline.

What is the cause of Klippel-Feil syndrome?

The exact cause is not known but there appears to be a mix of both genetic as well as spontaneous mutations. It is more commonly seen in females.

What are other features associated with Klippel-Feil Syndrome?

Other common defects associated with Klippel-Feil syndrome are scoliosis (curved spine), kidney defects, deafness, rib defects, hole in palate or lip (cleft palate/cleft lip), and heart defects. Occasionally patients may have Sprengel's deformity (high and elevated scapula). Rarely, patients may have eye problems, webbing of the skin of the neck, asymmetry of the face, extra or missing fingers.

What complications can occur with Klippel Feil Syndrome?

Most of the patients do not have any symptoms and may remain undiagnosed. Some children may have spinal cord injury after minor trauma due to high-risk patterns of cervical fusion.

What is the treatment for Klippel Feil syndrome?

Depending upon the extent and level of fusion, some people may develop cervical or craniocervical instability and require fusion surgery to prevent serious injury. If the spinal cord is compressed, surgery to relieve compression is required. For scoliosis, surgery may be required if it leads to cosmetic or breathing problems.

Most of the patients can lead a normal life. However, sports that can injure the neck should be avoided.

Klippel Feil Syndrome Klippel Feil Syndrome https://www.pediatriconcall.com/show_article/default.aspx?main_cat=genetics&sub_cat=klippel-feil-syndrome&url=klippel-feil-syndrome-patient-education 2015-08-01
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