Klippel-Feil Syndrome

Overview

Klippel-Feil Syndrome (KFS) is a rare disorder which is present at birth and caused by abnormal fusion of the vertebral (spinal column) bones found in neck. Klippel-Feil Syndrome is primarily characterized by short and webbed neck having a reduced range of movement. In some cases, it may not be diagnosed until later in life when symptoms start appearing. In some cases, Klippel-Feil Syndrome is associated with heart defects, hearing and visual abnormalities, kidney dysfunction and breathing problems.

According to an estimate, Klippel-Feil Syndrome has a frequency of affecting 1 in 40,000 newborns throughout the world. Another study found that females are more prone to Klippel-Feil Syndrome than males.

Cause

Exact cause of Klippel-Feil Syndrome hasn’t yet been established, however, in a certain percentage of cases, a genetic link has been found. Mutations in the GDF6 gene found on chromosome 8 cause abnormal development of cartilage in the embryonic stage. Later on, this abnormal cartilage converts into defective bone structure with multiple fusions in the vertebral column.

Types

Klippel-Feil Syndrome has been classified into three types:-

  • Type I: Fusion of several cervical (neck) vertebrae occur which may extend to the vertebrae of the upper thorax.
  • Type II: It is the most common type in which abnormal fusion of more than two vertebrae takes place
  • Type III: Anomalies of the vertebrae of thorax and lumber region in association with type I or type II Klippel-Feil Syndrome

Sign and Symptoms

Klippel-Feil Syndrome shows a variation of symptoms among different patients and even associated with other conditions as well but experts agree on the “classic triad” which is present in approximately 50% of the patients. It comprises of following:

  1. Short and webbed neck
  2. Restricted range of motion (ROM) of the cervical vertebrae which limit movement of the head and neck.
  3. Low posterior hairline

Other skeletal defects may also be present which includes sideways curvature of the vertebral column (scoliosis) and abnormal fusion of one or more ribs. Hearing loss, abnormal rapid eye movements and squinting, asymmetrical face and partial closure of the palate (cleft palate) have also been accompanied with Klippel-Feil Syndrome.

Congenital heart abnormalities, especially septal defects of the ventricles may also be found. In some cases of Klippel-Feil Syndrome, absence or abnormal development of kidneys and blocked ureters has also been reported.

Compression of spinal cord resulting from abnormal fusion of the vertebrae results in neurological issues, which include pain, tingling or burning sensations, and sometimes accompanied by exaggerated movements (hyperreflexia). Weakness of one side of the body can also occur. Trauma of the back can especially exacerbate the condition.

Klippel-Feil Syndrome

Short and webbed neck, and low posterior hairline can be observed (Source: www.medscape.com)

Klippel-Feil Syndrome Diagnosis and Treatment

Usually, Klippel-Feil Syndrome is diagnosed based on the classic triad of symptoms but sometimes it remains undiagnosed until later in life. Radiological examination consisting of X-rays, MRI and CT scan will reveal abnormal and defective vertebrae and associated tissues.

Conservative treatment measures are mostly restricted for primarily treating the symptoms. These measures include use of neck collars, traction and pain-killers. Individuals with associated hearing loss can benefit from hearing aids.

Surgical treatment of Klippel-Feil Syndrome depends on the location, extent of malformation, type of symptoms produced, and progression over time. Surgery can be performed for correcting skeletal defects or to relieve neurological symptoms in cases when spinal cord is compressed.

Sources

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922059/

https://emedicine.medscape.com/article/1264848-clinical?src=refgatesrc1

https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome#genes

https://rarediseases.org/rare-diseases/klippel-feil-syndrome/

https://radiopaedia.org/articles/klippel-feil-syndrome-3