Klippel Feil syndrome is a rare congenital (present at birth) disorder in which there is abnormal fusion of some of the cervical (neck) vertebrae.
Description
People with Klippel Feil syndrome are often identified due to three major characteristics: a short neck, a low hairline, and restricted neck mobility due to the fused cervical vertebrae. Klippel Feil syndrome can occur as a lone defect, or in association with other abnormalities, including scoliosis (curved spine), spina bifida (a birth defect involving the spinal column and cord), cleft palate, and a variety of defects involving the ribs, urinary tract, kidneys, heart, muscles, brain, and skeleton. Facial defects and problems with hearing and breathing may also occur in Klippel Feil syndrome.
Klippel Feil syndrome has been organized into three basic types. In type I, all of the cervical and upper thoracic vertebrae are fused together into one block. In type II, one or two pairs of cervical vertebrae are fused together. In type III, there is lower thoracic or lumbar fusion as well as cervical fusion.
Demographics
Although not a lot of data has been collected regarding how often Klippel Feil syndrome occurs, the information available suggests that the incidence of this condition ranges from about one in 42,400 births to about three in 700 births. Boys are slightly more likely than girls to have this condition (1.5:1).
Causes and symptoms
Klippel Feil syndrome is believed to occur during very early fetal development, when the cervical vertebrae do not segment normally. The exact mechanism that causes the defect is unkown.
Although most cases of Klippel Feil syndrome occur spontaneously, there have been a few reports of Klippel Feil syndrome that showed a pattern of inheritance within a family. In some cases, maternal alcoholism and subsequent fetal alcohol syndrome seems to be associated with Klippel Feil syndrome.
Many individuals with Klippel Feil syndrome have no symptoms. Individuals who have more minimal degrees of fusion can live completely normally and partake in all activities. They may never become aware that they have any abnormality at all. Individuals with more severe degrees of fusion will be obviously impaired in terms of their neck mobility. Some individuals will suffer from torticollis or wry neck, a condition in which the neck muscles pull the neck to one side. If the spinal cord is constricted by the abnormal vertebrae, neurological symptoms (weakness, numbness, tingling) may result.
A full 30–40% of all individuals with Klippel Feil syndrome will have significant structural abnormalities of their urinary tract. These often lead to chronic kidney infections (pyelonephritis), and a high risk of kidney failure.
Diagnosis
Diagnosis is usually established through a variety of imaging techniques, such as plain x-ray films of the neck and spine, CT scan, or MRI. Other diagnostic studies
should be done to uncover associated defects. For example, children diagnosed with Klippel Feil syndrome should have a thorough hearing screening performed, due to the high risk of associated hearing problems. The cardiovascular system and the kidneys and urinary tract may also require evaluation.
Treatment team
The treatment team will depend on the degree of disability brought on by the vertebral defects, and the presence of any associated problems. In more mildly affected individuals, a pediatrician and orthopedic surgeon may collaborate to achieve a diagnosis. In more severely affected individuals, a neurologist or neurosurgeon may need to be involved as well. Depending on what other body systems are involved, a cardiologist, nephrologist, urologist, and orofacial surgeon may be consulted. An audiologist can consult about hearing issues. A physical therapist and occupational therapist can be very helpful in helping with issues of mobility and ability to tend to activities of daily living.
Treatment
More mildly affected individuals will require no treatment. Other individuals may need surgery to improve cervical stability, correct scoliosis, and improve any constriction of the spinal cord. Depending on the degree of scoliosis, a brace may be helpful.
Physical therapy can be very helpful in order to improve strength and mobility. Occupational therapy can help more severely restricted individuals learn how to best perform activities of daily living, despite the limitations of their condition.
Prognosis
The prognosis is excellent for very mildly affected people with Klippel Feil syndrome. With careful medical attention, the prognosis can be good for more severely affected individuals as well.
BOOKS
Thompson, George H. "The Neck." In Nelson Textbook of Pediatrics, edited by Richard E. Behrman, et al. Philadelphia: W.B. Saunders Company, 2004.
Maertens, Paul, and Paul Richard Dyken. "Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies." In Textbook of Clinical Neurology, edited by Christopher G. Goetz. Philadelphia: W.B. Saunders Company, 2003.
Warner, William C. "Pediatric Cervical Spine" In Campbell's Operative Orthopedics, edited by S. Terry Canale. St. Louis: Mosby Company, 2003.
