Introduction
The neck is a region between the head and the body; there are seven bones in the neck called the cervical vertebra or the cervical spine. The neck bones are stacked one over the other in a tubular fashion and are categorized as C1 to C7 from the top. They are supported by intervertebral discs, various muscles, tendons, and ligaments.
The cervical spine is one of the most complex regions in the body and has the ability to handle a heavy load. Along with supporting structures, the cervical spine helps to keep the neck flexible and aids in the movements of the head.
What Is Klippel Feil Syndrome?
Klippel-Feil syndrome is a rare, complex condition that presents an abnormal fusion of two cervical vertebrae (neck bones), particularly at the C2 and C3. Klippel-Feil syndrome is a congenital anomaly (birth defect) due to the failure in normal segmentation of the cervical bones during three to eight weeks of a baby's development in the womb.
The disorder was first described by Maurice Klippel and Andre Feil in 1912. This condition affects approximately 1 in 40000 newborns with a slight female predilection. The condition is also known as congenital brevicollis syndrome or cervical vertebral fusion syndrome.
What Are the Signs and Symptoms of Klippel Feil Syndrome?
The most common signs of Klippel-Feil syndrome found at the time of birth include:
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Short neck.
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The low hairline level at the back of the head.
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Limited neck movements.
Klippel-Feil syndrome shows a wide spectrum of associated anomalies involving the skeleton, muscles, central nervous system, cardiovascular system, reproductive system, urinary system, respiratory system, endocrine system, ears, and eyes.
Some of the clinical findings that may be associated with Klippel-Feil syndrome are:
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Facial asymmetry.
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Heart problems.
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Deafness.
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Mental deficiency.
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Chest bone defects.
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Sideways curvature of the spine (scoliosis).
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Abnormally curved spines like kyphosis and lordosis.
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Underdeveloped and deformed spine.
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Shoulder bone is higher on one side than the other.
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Oral manifestations like cleft lip and cleft palate, undersized jaws, missing teeth, difficulty in opening the mouth, and night grinding.
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Other skeletal malformations, especially in hands and fingers.
What Are the Types of Klippel Feil Syndrome?
Based on the form and structure, Feil classified Klippel-Feil syndrome into three types. They include:
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Type I: A massive fusion of the cervical spine, which may also involve the upper backbone.
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Type II: Fusion of one or two cervical interspaces and may involve other vertebral anomalies.
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Type III: Either type I or type II Klippel-Feil syndrome with upper and lower backbone involvement.
There is also another classification devised by Samartzis, which is as follows,
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Type I: Single-level, a fused cervical bone at the time of birth.
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Type II: Multiple levels, fused cervical bones but not adjoined.
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Type III: Multiple levels, adjoined fused cervical bones.
Samartzis’s paper suggested that patients with type I Klippel-Feil syndrome have major neck symptoms while those with type II and type III are more likely to develop major spinal diseases.
How to Diagnose Klippel Feil Syndrome?
Klippel-Feil syndrome is scrutinized with multiple diagnostic factors. They include:
1. Physical Examination
Physicians will inspect the deformities like short neck, low hairline in the back head, short stature, cleft palate, and limited range of motion of the head and neck.
Simultaneous analyses of other anomalies are also done.
2. Systemic Evaluation:
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Heart: Echocardiogram (ECG) is recorded to evaluate the heartbeat and impulses. Klippel-Feil syndrome may be associated with irregular heartbeat and vessel block.
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Kidney: A urine sample test is advised and will indicate kidney dysfunction if there is high albumin (protein), urea, and nitrogen excretion in urine. Renal ultrasonography (kidney ultrasound imaging) and intravenous pyelogram (X-ray examination of the urinary tract using contrast dyes) are used to visualize both the left and right kidneys and their related structures.
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Stomach and Intestines: Bowel and bladder incontinence, obstruction, and abnormalities in the large intestine are observed in Klippel-Feil syndrome.
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Ear: An audiological evaluation is performed to test hearing. Approximately 30 percent of people with Klippel-Feil syndrome will have deafness.
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Brain: A thorough neurological examination that includes the cranial nerve, sensory skills, and brain-to-body reactions and reflexes is necessary.
Radiographic Investigations:
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X-rays: The fusion of the cervical vertebral bodies can be illustrated through X-rays and helps to evaluate the stability of the cervical bone joints. In addition, X-rays are also used to visualize the upper and lower backbones to check for curvature, proper development, and formation.
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CT (Computed Tomography) Scan: CT images will show extensive details of the structures and are extremely useful before surgical procedures.
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MRI (Magnetic Resonance Imaging): The integrity of the spinal cord, intervertebral discs, ligaments, tendons, and other soft tissue structures are well assessed with MRI. An MRI is highly essential in people with nervous system damage.
How to Treat Klippel Feil Syndrome?
In Klippel-Feil syndrome, a group of different doctors and healthcare professionals should work together to manage the condition. These can include brain and spine specialists, nurses, and physical therapists. The treatment depends on how bad the symptoms are. Some people may need special braces or equipment to help them move. But also need to be careful not to hurt the necks, so these patients are not allowed to play rough sports.
Surgery is an option but involves serious risk, and to have a team of experts involved, like brain and spine surgeons.
Non-surgical Management
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Medications: Painkillers (NSAIDs - non-steroidal anti-inflammatory drugs) and muscle relaxants are used to alleviate the symptoms.
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Physiotherapy: Because of the risk of osteoarthritis (inflammation of the joints) changes in Klippel-Feil syndrome causing more stiffness of the fused cervical spine, physical therapy is started earlier to avoid or delay the damage.
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The combined use of medications and physiotherapy can be useful in preventing degenerative changes associated with Klippel-Feil syndrome.
Surgical Management
Patients who do not respond well to conservative treatment and complain of persistent pain and weakness are advised surgeries. Anterior and posterior approach cervical fusion surgery is performed after initial evaluation. Bracing (supporting device) may be necessary for a few days after surgery to retain the stability of the spine. Further, in patients with associated anomalies, cumulative care of various specialists aids in the treatment of cardiac, renal, and gastrointestinal abnormalities. Apart from that, hearing loss can be managed with hearing aids or cochlear implants.
What Are the Complications Involved?
The degenerative changes can cause the following complications which require treatment.
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Fractures: Breaks in the bones of the cervical spine, which can lead to pain, instability, and potential damage to the spinal cord.
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Disc Degeneration: Wear and tear of the discs between the vertebrae, causing pain, reduced flexibility, and potential nerve compression.
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Spondylosis: Arthritic changes in the spine, resulting in pain, stiffness, and decreased mobility in the neck.
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Spinal Canal Stenosis: Narrowing of the spinal canal, which can compress the spinal cord or nerves, leading to pain, weakness, and loss of function.
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Disc Herniation: The protrusion or rupture of a spinal disc, potentially causing pressure on nearby nerves and resulting in pain, numbness, or weakness.
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Osteophytes: Abnormal bone growths (bone spurs) that can develop on the vertebrae, potentially causing pain and limiting movement in the neck.
Conclusion:
Klippel-Feil syndrome is a very rare disease that poses a great challenge in treatment planning and necessitates the care of an interprofessional team from the healthcare system. Early diagnosis and therapy can prevent degenerative changes. The treatment outcome of Klippel-Feil syndrome depends on the initial deformity and the severity of systemic involvement. Some patients will not have symptoms at all. At the same time, others will have neurological involvement that reduces the quality of life.
