Klippel Feil Syndrome : Symptoms,Causes & Treatment

Klippel Feil Syndrome: Klippel Feil Syndrome is a bone disorder characterized by the congenital spinal fusion of any two of the seven cervical vertebrae. The bone disorder present- the fused vertebra in neck from the birth. Three significant features result from this fused vertebra in neck: a short neck, a low hairline at the back of the head, and a limited range of movement in the neck. Most affected characters have one or two of these characteristic hallmarks. Fewer than half of all individuals with Klippel Feil syndrome have all three typical features of this situation.Klippel Feil SyndromeIn people with Klippel-Feil syndrome, the fused vertebrae in the neck can limit the neck movement and lead to chronic headaches and muscle pain in the neck and back. The shortened neck can cause a slight variance in the size and shape of the right and left sides of the face. The fused vertebra in neck from the birth can commence to nerve damage in the head, neck, or back. Over time, in Klippel Feil syndrome can develop a narrowing of the spinal canal in the neck, which can compress the spinal cord. Spinal nerve abnormalities may cause abnormal sensations in people with Klippel Feil syndrome. Affected individuals may develop a painful joint-osteoarthritis around the fused bone or feel painful involuntary tensing of the neck muscles known as the cervical dystonia. In addition, people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis); the fusion of additional vertebrae below the neck may also occur.

In some circumstances, Klippel Feil syndrome occurs as a feature of another disorder, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the symptoms of both Klippel Feil syndrome and the additional ailment.

Klippel Feil syndrome is considered to happen in 1 in 40,000 to 42,000 newborns global. Females seem to be swayed somewhat more often than males.

Signs and Symptoms of Klippel Feil Syndrome

The common disorder is restricted mobility of the neck and upper spine. A short neck and low hairline at the back of the head may happen in some sufferers.

Numerous associated abnormalities of other organ systems may include-

  • Scoliosis (curvature of the spine), which sometimes appears as a "C" or an "S"
  • Cleft palate
  • Spina bifida, when the spinal canal and the backbone do not close completely during birth.
  • Dental problems -high-risk of caries, oligo- and hypodontia
  • Respiratory problems
  • Short stature
  • Heart malformations
  • Duane syndrome
  • Srb's anomaly
  • Nearly 35% of patients with Klippel Feil syndrome will additionally have a congenital elevation of the scapula identified as Sprengel's deformity.

Causes of Klippel Feil Syndrome

Mutations in the GDF3,  GDF6, or MEOX1 gene can make the Klippel Feil syndrome. Those genes are linked in proper bone development. The protein built from the GDF6 gene is essential for the formation of bones and joints, including those in the spine. While the protein built from the GDF3 gene is distinguished to be involved in bone development, its specific role is unclear. The protein built from the MEOX1 gene, called homeobox protein MOX-1, controls the process that begins separating vertebrae from one another throughout early development.

GDF3 and  GDF6 gene mutations that induce Klippel Feil syndrome likely lead to diminished function of the respective proteins. MEOX1 gene mutations commence to a complete lack of homeobox protein MOX-1. Although the GDF3, GDF6,  and homeobox protein MOX-1 proteins are required in bone development, a particular formation of vertebrae, it is unclear how a deficiency of one of these proteins leads to inadequate separation of the cervical vertebrae in people amidst Klippel Feil syndrome.

Meanwhile, Klippel Feil syndrome is a feature of another disorder, it is induced by mutations in genes associated with the other disorder.

Meanwhile, Klippel Feil syndrome is caused by mutations in the GDF3 or  GDF6 genes, it is derived in an autosomal dominant pattern, which indicates one copy of the altered gene in each cell is adequate to cause the disorder.

Meanwhile caused by mutations in the MEOX1 gene, Klippel Feil syndrome is acquired in an autosomal recessive pattern, which indicates both copies of the gene in each cell have mutations. The progenitors of an individual with an autosomal recessive malady each carry one copy of the mutated gene, but they typically do not exhibit signs and symptoms of the condition.

Diagnosis of Klippel Feil Syndrome

Patients with Klippel Feil syndrome have a fused vertebra in neck from birth but are normally diagnosed at later age.  Some victims are diagnosed while undergoing radiography for other purposes related or even not related to this syndrome. This Klippel Feil syndrome is usually diagnosed during the presentation of complaints occur. The several important ailments of the fused vertebra in neck from birth are pain and neurologic symptoms.

Neurologic exams are preferred when neurologic symptoms develop. In extension, Radiographic evaluation is required to determine the diagnosis of Klippel Feil syndrome.

Congenital spinal fusion can be documented by plain films and CT-scans or preferably a magnetic resonance image (MRI). An MRI including flexion and extension MRI is assigned when complaints of instability and/or spinal stenosis appear. Instability associated with an adjoining fused segment can be tested with the translation of the vertebral corpus on another. Pseudorotation of C2 on C3 or C3 on C4 is a normal phenomenon in children with Klippel Feil syndrome younger than the age of 8 years.

Magnetic resonance imaging can provide valuable information about the space available for the spinal cord, determination of spinal stenosis generated by the deformation, and CSN abnormalities like; Syrinx, tethered cord, or diastomyelia. It is also used to determine if the cervical malformation compresses the brain, brainstem or the spinal cord.

Feil subsequently classified the syndrome into 3 categories:

  • Type I — the Congenital spinal fusion of many cervical and upper thoracic vertebrae
  • Type II — the Congenital spinal fusion of two or three vertebrae with associated hemivertebrae, occipito-atlantal fusion or other cervical spine abnormalities. Flexion, extension, and rotation are entirely concentrated in the region of the abnormal odontoid. The contrast in the pattern within the patient with a long fusion and a normal C1-C2 articulation is that C1-C2 can live a normal life anticipation.
  • Type III-the cervical fusion including lower thoracic or lumbar vertebral fusion.

Treatment of Klippel Feil Syndrome

Children with Klippel Feil syndrome are diagnosed with a variety of orthopedic ailments including bone fusion, scoliosis and hand oddities. In some instances, these conditions are already at birth and can be treated meanwhile the child is young. Follow-up investigations should be done to follow growth and changes in the deformations.

For instance, a child with webbed fingers or cleft palate will likely require surgery. Orthopedic specialists or plastic surgeons will work with your family to plan an individualized care plan for your child.

Klippel Feil syndrome treatment strategy is symptomatic and may comprise surgery to relieve craniocervical instability and compression of the spinal cord, and to fix scoliosis.

Failing non-surgical therapies, spinal surgery may provide relief. Adjacent segment ailment and scoliosis are two instances of common symptoms linked with Klippel Feil syndrome, and they may be managed surgically. The three classes of Klippel Feil syndrome is treated for types of spinal cord deficiencies are the massive fusion of the cervical spine (Type I), the presence of thoracic and lumbar spine oddities in association with type I or type II Klippel Feil syndrome (Type III), and the fusion of 1 or 2 vertebrae (Type II).

Adjacent segment syndrome can be addressed by doing cervical disc arthroplasty practicing a device such as the Bryan cervical disc prosthesis.The benefit of the surgery is to maintain range of motion and attenuate the rate of adjacent segment disease progression without fusion. Another type of arthroplasty that is becoming a substitute choice for spinal fusion is Total Disc Replacement. Complete disc replacement objective is to reduce pain or abolish it. Spinal fusion is generally used to correct spinal deformities such as scoliosis. Arthrodesis is the last opportunity in pain relieving methods, customarily when arthroplasties fail.