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.
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.