Klippel-Feil Syndrome – A Rare Cause of Neck Pain

klippel feil syndrome neck pain causes

Klippel-Feil syndrome is a congenital cervical spine condition that can cause neck pain.

A rare cause of neck pain, Klippel-Feil syndrome is a cervical spine condition usually present to some degree at birth and which results in the congenital fusion of two of the seven cervical vertebrae. Patients with Klipper-Feil syndrome may also have scoliosis, spina bifida, and other health issues seemingly unrelated to the spine itself, such as heart malformation. Neck surgery may be necessary for some patients with severe symptoms from Klipper-Feil syndrome whereas others may be able to manage neck pain and other symptoms of the condition using physical therapy and pain medications.

What is Klippel-Feil Syndrome?

The cause of neck pain in Klippel-Feil syndrome can be traced to a failure of the cervical vertebrae to separate (segment) properly during early development of the foetus. Babies may have a short neck, low hairline, and show restricted mobility in the movement of the head and neck but some patients with Klippel-Feil syndrome only become aware of their condition as they grow older and suffer from more pronounced symptoms. Problems with renal (kidney) function may occur in sufferers, as can respiratory issues due to abnormal rib development, as well as a cleft palate, other malformations of the head and face, and unusual development of the sex organs, muscles, brain, spinal cord, arms, legs, and hands.

Klippel-Feil Syndrome – The Prognosis

Patients with Klippel-Feil syndrome generally have a good prognosis if treated early but sufferers should be careful to avoid any activities that could injure the neck. Sufferers may have a shorter life-expectancy on account of the heart defects and potential kidney problems that can occur with the condition, although research is lacking in this area. Symptomatic relief is the usual treatment for the condition, with physical therapy usually recommended and neck surgery considered where the cervical spine is found to be unstable and the spinal cord compressed. Patients with scoliosis and Klippel-Feil syndrome are considered more likely to benefit from back surgery earlier in life.

Symptoms of Klippel-Feil Syndrome

One of the problems with ensuring patients receive early treatment for Klippel-Feil syndrome is diagnosing the illness from the fairly heterogeneous symptoms it can cause. The congenital spine condition is considered by some to be part of a spectrum of congenital spinal deformities rather than a separate entity in itself, and the lack of research into the condition means that the prevalence of Klippel-Feil syndrome remains largely unknown. Estimates put the incidence of KFS in the region of 1 in 40,000-42,000 births worldwide with female children thought more likely to be affected than male offspring.

Types of Klippel-Feil Syndrome

Klippel-Feil syndrome was classified into three groups by one of the two men who initially reported the condition in 1912, André Feil. In Type I there is massive fusion of the cervical spine, Type II KFS involves the fusion of one or two vertebrae, and Type III sees additional spine anomalies in the thoracic and lumbar regions of the spine.

klippel feil syndrome neck pain gladstone small cricketer

Cricketer Gladstone Small achieved sporting success despite Klippel-Feil syndrome.

Classification Systems for KFS

A more recent attempt to classify Klippel-Feil syndrome took place in 2006 as Dino-Samartzis and colleagues used cervical spine anomalies and the symptoms associated with them to categorize cases along with signs connected to the ageing process. Their classification system placed patients with a single-level fusion into Type I KFS, those with multiple, noncontiguous fused segments into Type II, and patients with multiple, contiguous fused segments into Type III. Other clinicians have also attempted to create a classification system for Klippel-Feil syndrome but the consensus appears to be that those with symptoms below the level of C3 and C4 tend to have fewer symptoms and a better prognosis.

Treatment for Klippel-Feil Syndrome

Surgical intervention for patients with KFS can include cervical disc arthroplasty to address adjacent segment disease. This may improve and maintain range of motion and reduce further spine degeneration without requiring spinal fusion. Patients with scoliosis are more likely to undergo spinal fusion and some patients, commonly those for whom arthroplasties have failed, undergo arthrodesis (a bone graft between the vertebrae) to relieve neck pain from Klippel-Feil syndrome, as well as other symptoms of the congenital condition.

205 replies
  1. Katrina Kirkland-Cornia
    Katrina Kirkland-Cornia says:

    This is a great article. Thanks for spreading the word about KFS. I’m 31 and have multiple cervical fusions, rib fusions, cervical ribs, and muscle abnormalities. I am wondering where you got the information about life expectancy of people with KFS. I have never heard that before, and as far as I am aware there is no known or estimated life expectancy due to a huge lack of research. Please let me know. I am interested in the source of the information. Thanks again! -K

    • LMatthews
      LMatthews says:

      Hi Katrina,

      Glad you liked the article. I’ve just removed the declarative statements on life-expectancy as I realised that the reference I used was a reference to an unsubstantiated and now unavailable journal article – making it impossible to verify its veracity. It is still likely that some sufferers of KFS have a shorter life expectancy due to the many and varied symptoms of the condition, such as heart defects, kidney issues, and the increased risk of neurological injury (including spinal cord injury). I guess the difficulty with putting an exact figure of curtailed life expectancy is that so many people with KFS differ in the degree and nature of their symptoms.

      Thanks for reminding me to be an evidence-based journalist and good health to you!

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