Klippel-Feil Syndrome

The clinical presentation of patients with Klippel-Feil syndrome is variable because of presence of other syndromes and anomalies. In many cases, the discovery of Klippel-Feil syndrome is an incidental finding. In general individuals with involvement of the upper cervical spine present much earlier than those with involvement of the lower spine.

A very common finding on examination is a short neck with limited range of motion. Most patients have difficulty rotating the neck. In some patients there is also loss of cervical spine flexion and extension. A low hairline may be seen in about 50% of patients. Other features of the disorder include presence of facial asymmetry and torticollis. About 20% of individual present with mild to moderate neurological deficit so a proper neurological exam is indicated. Besides paresthesias, some individuals may have muscle weakness and atrophy [5] [6].

The neurological deficits result from spinal stenosis, fusion anomalies and or unstable fusions of the vertebral joint and may include:

• Synkinesia
• Paresthesia
• Radiculopathy
• Myelopathy
• Torticollis
• Craniosynostosis

Skeletal anomalies include:

• Fused ribs
• Hypermobility of craniocervical junction
• Scoliosis
• Sprengel deformity is seen in about 1/4th of patients
• Congenital limb anomalies

Renal abnormalities include:

• Renal ectopia
• Double collecting system
• Bilateral tubular ectasia
• Horseshoe kidney
• Absence of kidney

Cardiovascular anomalies

• Atrial septal defects

ENT anomalies 

• Hearing defects
• Structural defects of the ear

Indications for Surgery

• Not all patients with Klippel-Feil syndrome need treatment. Because the syndrome can present with diverse features that vary from mild to severe, the individual must be thoroughly worked up. The indications for surgery include presence of symptoms, instability of cervical spine, rate of progression of the deformity, location of the deformity and patient preferences. The presence of neurological symptoms is generally a strong indication for surgery [7] [8] [9].
• Other indications include instability of the cervical spine and/or neurologic problems.
• There are some individuals who present early in the teenage years with severe cervical and thoracic spine deformity that is deforming and progressive. Some of these patients may require cervical spine fusion to prevent progression of the disease.
• Some individuals may have congenital scoliosis or may develop compensation which may progress and worsen the symptoms. These individuals often require surgery to prevent the deformity and symptoms.

Contraindications

There are no absolute contraindications for surgery, but good clinical judgment is required before recommending surgery. It is vital that the surgeon assess the patient thoroughly and also take into account presence of any other co-existing disorder or syndrome. The patient must also be medically and physically fit to undergo surgery. If the patient has an underlying congenital heart defect, it must be corrected prior to surgery on the spine. The patient must be fully worked up before undertaking any surgery.

• Blood work is not useful for making a diagnosis of Klippel-Feil syndrome. However, patients who undergo surgery need to have a complete blood count, electrolytes, renal function, coagulation profile and urine analysis.
• Lateral and AP X-rays of the spine are often done to assess the cervical spine. If there is instability of the cervical spine, flexion-extension images are also obtained. To detect other possible spine anomalies, X-rays of the entire spinal column must be obtained. Rib and chest wall X-rays are also necessary to look for rib anomalies such as fusion.
• The two imaging tests of choice to fully assess the patient with Klippel-Feil syndrome are CT scan and MRI. These imaging tests also enable 3D reconstruction and can be invaluable in interpreting the anatomical defects. CT scan is also useful for planning of surgery.
• Patients with neurological deficits may benefit from an MRI, which is far more superior in assessing spinal stenosis.
• In patients with suspected renal involvement, ultrasound is preferred to intravenous pyelography.
• Echocardiogram is performed to rule out any heart or valvular defects
• Since children with Klippel-Feil syndrome have hearing deficits, an audiologist consult is necessary to determine degree of hearing deficit.

Medical therapy has a minimal role in patients with Klippel-Feil syndrome. Because the disorder is not common, it is highly recommended that patients are referred to specialists because the general physician may not be aware of the different anomalies that can occur. If any type of urological or renal abnormality is suspected, consultation with a nephrologist and or urologist is recommended. Similarly, all heart defects need to be referred to a cardiologist and/or a cardiac surgeon. Because of the high incidence of ear problems, consultation with an ENT surgeon and audiologist is recommended. These specialists may help with the investigation, monitoring and follow up of the patient. Nerve impingement may present with pain and paresthesias which may require non-steroidal anti-inflammatory drugs (NSAIDs), anticonvulsants and analgesics.

Surgical therapy

Surgical therapy is necessary in some patients with Klippel-Feil syndrome. Because the disorder presents with fusion of the spine, the growth potential of a child can sometimes be impaired. In other cases, the cervical spine fusion can be progressive and lead to both a cosmetic and neurological deficits. Other individuals may have cervical spine instability which may lead to paralysis if not promptly treated. Other indications for surgery include constant and worsening pain and ongoing neurological deficits. The type of surgery for Klippel Feil syndrome is variable. If the patent has spinal stenosis, it may require decompression and fusion; others patients may require fusion if there is vertebral instability.

Preoperative details

Prior to undertaking surgery, the patient must be thoroughly assessed to ensure that he/she is fit for surgery. CT scans are generally obtained to determine the site of surgery and extent.

The prognosis of patients with Klippel-Feil syndrome depends on the severity of the disorder and presence of any other syndromes. All patients must be followed for life, since the disorder is often progressive. A multidisciplinary approach to care is required to avoid the morbidity of the disorder. Because the disorder is not common, patients should be referred to orthopedic or neurosurgeons who specialize in spinal and craniofacial defects. Even when surgery is performed, complications are not uncommon and can be serious. The complications of spinal surgery vary from paresthesia, paralysis, spinal fluid leak, infections, hematoma and even death. Mild cases of Klippel-Feil syndrome have a good prognosis but those with multiorgan involvement have a guarded prognosis.

Klippel-Feil syndrome type 1 is caused by heterozygous mutation in the GDF6 gene on chromosome 8q22, autosomal recessive Klippel-Feil syndrome type 2 is caused by mutation in the MEOX1 gene on chromosome 17q21, and autosomal dominant Klippel-Feil syndrome type 3 occurs due to mutation in the GDF3 gene on chromosome 12p13. The syndrome is known to present in patients with other syndromes such as Goldenhar syndrome, fetal alcohol syndrome and anomalies of the extremities. 

Recent data indicates that perhaps there is a systemic insult (eg. vascular interruption) to the fetus during pregnancy which may explains its systemic features and occurrence with other syndrome. So far the role of the environment or medications has not been studied.

The exact incidence of Klippel-Feil syndrome is not known because not all people with the disorder come to medical attention. The disorder is rare and not usually encountered in everyday medical practice. The majority of patients with Klippel Feil syndrome present as children. The disorder occurs in both genders and can affect all races. Analysis of spine films from two relatively large studies indicate that the incidence may vary from 0.7 to 1%. The severity of the defect does vary greatly and may occur in the presence of several other syndromes.

The pathophysiology of Klippel-Feil syndrome is not well understood. Because the disorder affects the spine and other organs, it is suspected that a systemic insult may be the cause. More recent data suggest that interruption of blood supply to critical organs in the fetus may be a possible explanation for the pathology. The “injurious” agent appears to affect predominantly the cervical spine, heart and the urogenital systems.

It is not possible to prevent Klippel-Feil syndrome. However, once the diagnosis is made, it is important that the individual follow up closely with the specialist. The disorder is often progressive and can suddenly become symptomatic. When treated early, whether medically or surgically, the prognosis for most patients is good. For patients with fused vertebrae, physical therapy may help improve the range of motion. Patients with unstable vertebral segments should avoid all sports until the disorder is surgically fixed.

Patients with Klippel-Feil syndrome should be told to avoid contact sports or any other type of activity where there is risk of injury to the head or neck area. The reason is that there have been several cases of traumatic tetraplegia even after minor trauma in patients with unstable cervical spine segments.

Klippel-Feil syndrome is a rare congenital anomaly that presents with a triad of short webbed neck, limited range of motion of the cervical spine and a low hair line. The disorder may occur isolated or in association with numerous other syndromes. Besides the spine anomaly, one may also observe anomalies of the urogenital system and heart. Klippel-Feil syndrome is not a common disorder and most physicians are unlikely to encounter it in their everyday practice. Several classifications have been developed to describe the severity of the syndrome and its pathology, which include the following:

• Type I – Extensive fusion of the cervical spine. This is usually a single level fusion.
• Type II – More than one vertebrae is fused.
• Type III – The is extensive spinal cord involvement, including presence of thoracic and lumbar spine anomalies.

In Klippel-Feil syndrome the defect in the spine is most commonly found between cervical segments C1-C3. Any anomaly here is likely to cause symptoms whereas lesions lower then C4 are less likely to cause symptoms. Overall at least 1/4th of patients with Klippel-Feil syndrome develop symptoms with in the first ten years of life. The rest tends to develop symptoms in the second to third decade of life [1] [2] [3] [4].

Klippel-Feil syndrome is a rare disorder that presents with fusion of the cervical spine. The affected individual will have a very short neck, with difficulty performing rotational movements of the neck. The condition may occur in combination with several other skeletal anomalies, including scoliosis and fusion of the ribs. The exact cause of Klippel-Feil syndrome is unknown. The disorder can present with varied features but the most prominent are a short neck, inability to turn the head and low hairline. While most affected individuals have no symptoms, others may present with neurological problems like numbness or pain in the extremities. The treatment depends on the severity of the condition and other associated defects. Surgery is often required when the disease is progressive and the cervical spine is unstable.

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