Have you heard of Klippel-Feil Syndrome? Let us learn more about this very rare disease in this article.
Klippel-Feil syndrome is a very atypical type of congenital bone disease wherein two or more bones of neck vertebrae are fused or united. The condition is also called congenital cervical synostosis, cervical vertebral fusion and KFS. Oftentimes, KFS patients also have other serious health problems or abnormalities such as Sprengel’s Deformity, abnormal kidneys and anomalous spinal cord. Studies show that the syndrome affects 1 out of 42,400 births, and boys are more affected than girls.
Klippel-Feil syndrome is categorized into three.
• Type I is characterized by the extensive fusion of upper thoracic and cervical vertebrae forming one bony block.
• Type II is typified by just one or two merged cervical vertebrae.
• Type III KFS is the fusion of both cervical vertebrae and the lower thoracic.
Klippel-Feil syndrome Causes
The main cause of this bone disorder remains unknown. However, it is believed that environmental and genetic factors greatly affect the early development of the fetus during pregnancy. Granted, majority of KFS cases occur spontaneously; but several reports reveal that family history of the disease brings about the disorder to the next generations. Meanwhile, some cases of KFS are linked to fetal alcohol syndrome. Normally, there are seven cervical vertebrae separated by what is known as articulation and intervertebral disc to permit movement between segments and cervical vertebrae division happens during the initial weeks of pregnancy. In KFS, normal division of cervical vertebrae has failed resulting to the union of cervical vertebrae.
Klippel-Feil Syndrome Symptoms
Among the features that portray KFS are short and stiff neck, upper spine immobility and low posterior hairline. About 40% of KFS patients have other structural abnormalities in their heart, kidneys, lungs, auditory system and brain. KFS is also linked to abnormalities on the face, fingers, legs, arms, brain, skeleton, muscles, spinal cord and sex organs. Other abnormalities associated with KFS also include birth defects of the spine better known as spina bifida, spine curvature or scoliosis, respiratory problems, ribs and kidneys abnormalities, heart malformations and cleft palate.
What are the complications of KFS?
Complications may arise if Klippel-Feil Syndrome goes untreated. The condition could aggravate into degenerative disk disease. It may also lead to Hemiplegia or paralysis of one side of the body as well as Paraplegia which is the paralysis of the lower body and legs.
Until now, earnest efforts to discover the real cause and create the appropriate treatment methods are undertaken to fully understand and manage Klippel-Feil Syndrome.
Klippel-Feil Syndrome Diagnosis
KFS diagnosis is done by means of different imaging examinations or tests like X-ray, MRI and CT scan. Usually, X-rays are done to check the neck and spine, while MRI is conducted to help confirm the presence of intraspinal abnormalities. CT scan is also helpful in diagnosing KFS. Other diagnostic tests might be required to rule out associated problems, like hearing screening for children who are more susceptible to suffer from hearing problems. While the kidneys and heart must also be evaluated to determine any anomalies therein.
Klippel-Feil Syndrome Treatment
Treatment for KFS is usually based on the type and extent of deformity or abnormality. Mild cases of KFS do not require any treatment and the patient could live a completely normal life and engage in any activities. Of course, those with severe fusion and spinal abnormality require treatment to be able to improve their cervical stability, spinal cord constriction and correct the scoliosis. The following are ways of treating Klippel-Feil Syndrome.
• Medical Therapy
Depending on the extent of congenital abnormalities of the patient, medical therapy might be used. There is no such person as a KFS specialist, so medical treatment is based on the patient’s abnormalities. An audiologist handles KFS patients suffering from auditory abnormalities, while an Urologist or a nephrologist handles those with genitourinary anomalies. The cardiologist will be the one to handle KFS patients suffering from cardiovascular abnormalities.
• Physical Therapy
This greatly helps KFS patients improve their mobility and bodily strength. For severely restricted KFS patients, occupational therapy is recommended to help such individuals perform daily activities even with their limitations.
• Surgery for KFS
Surgical procedure is required for different situations. If deformity is progressive due to the fusion abnormalities, surgery intervention might be needed. This is also the case for relentless pain and Neurologic discrepancy. For instance, compensatory curve development on thoracic spine requires bracing by means of surgical procedure.
Prognosis of Klippel-Feil Syndrome
Generally, the prognosis for KFS is dependent on the anomalies manifested in every patient. That is why, along with careful evaluation, coordination and regular follow up checkups are needed to rule out unfavorable consequences. Those who receive early and proper treatment as well as those who are mildly affected by the syndrome have good prognosis. In addition, patients must also avoid activities that could possibly injure the cervical vertebrae (neck). Even so, severely affected KFS patients can also achieve good prognosis with appropriate medical attention.
Klippel-Feil Syndrome Pictures
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