The Klippel -Feil syndrome is a rare malformation. The cervical spine is primarily affected by the disease.
What is Klippel-Feil Syndrome?
Typical symptoms of the Klippel-Feil syndrome include neck pain, headaches, migraines, nerve pain and restricted movement.
In medicine, the Klippel-Feil syndrome is also referred to as congenital cervical synostosis. What is meant by this is a congenital, rarely occurring malformation of the cervical spine, which can be accompanied by other malformations. See AbbreviationFinder for abbreviations related to Klippel-Feil Syndrome.
The Klippel-Feil syndrome was named after the French neurologists Maurice Klippel and Andre Feil. The two doctors first described the incorrect segmentation of the cervical spine in 1912. A connection between the syndrome and a short neck, restricted neck mobility and a deep neck hairline was often seen. However, only 34 to 74 percent of all patients suffered from these symptoms.
In the context of the Klippel-Feil syndrome, at least two cervical vertebrae are displaced. A displacement of the entire cervical spine is also possible. The frequency of the syndrome is 1:50,000, which makes it a rare disease.
The Klippel-Feil syndrome already develops in early pregnancy. The cervical somites, special parts of the embryo, do not mature properly or do not develop normally. However, to this day it has not been possible to explain what causes this developmental disorder. The severity of the Klippel-Feil syndrome is very different and varies from mild, harmless symptoms to massive malformations.
A typical feature of the Klippel-Feil syndrome is the fusion of several vertebral bodies in the cervical region. The vertebrae often show a deep hairline. It can also lead to a short, crooked neck, a misaligned head and a stiff neck. It is not uncommon for patients to have a good range of motion. Depending on how severe the bony adhesions are, those affected suffer from symptoms that primarily affect the mobility of the cervical spine.
However, other joints partially compensate for the lack of mobility, which sometimes leads to hypermobility. Because the hypermobile sections of the spine lack stability, spondyloarthritis, instability at the spinal joints, or spinal cord injuries are all a possibility.
Symptoms, Ailments & Signs
Typical symptoms of the Klippel-Feil syndrome include neck pain, headaches, migraines, nerve pain and restricted movement. This is due to the abnormal vertebral deformations. These cause mechanical irritation of the exiting nerve roots. Myelopathy can also occur due to congenital narrowing of the spinal cord canal.
However, the symptoms of a Klippel-Feil syndrome usually vary from person to person. These include anomalies of the ribs, an elevated position of the shoulder blade (Sprengel’s deformity), disorders of finger development, a low-lying, crooked spine such as scoliosis or kyphosis, dental disorders, an open back (spina bifida) and a cleft palate.
Some of those affected even form a hump, which can also lead to a lateral curvature. Paralysis of the eye muscles (Duane syndrome), deafness and malformations in the urinary tract or the heart are also conceivable. In many patients, the symptoms only become apparent in adulthood.
Diagnosis & course of disease
A Klippel-Feil syndrome is usually found in adults. Diagnosis is by clinical examination. In addition, the cervical spine is visualized as part of an X-ray examination. The examining doctor can use imaging in two planes to determine the severity and exact position of the syndrome. Computed tomography (CT) or magnetic resonance imaging (MRI) are additional examination options.
The latter is primarily recommended for small children because the radiation exposure is lower with this method. The procedure can also be used to detect spinal cord damage. When diagnosing the Klippel-Feil syndrome, it is also important to make a differential diagnosis. Other malformations in the cervical spine can also be responsible for the symptoms.
The course of the Klippel-Feil syndrome is usually very different. The extent of the symptoms depends on how the vertebrae grow together. Possible consequential damage is also important. A cure for the slowly progressing disease is not possible. The older the patient gets, the worse the pain in the spine. However, the prognosis for life expectancy is generally good.
The Klippel-Feil Syndrome causes considerable discomfort in different areas of the body. This primarily causes pain in the neck and head. This pain can also spread to other regions of the body and cause discomfort there. It is not uncommon for the pain to also occur at night in the form of pain at rest, leading to difficulty sleeping.
Furthermore, restricted movement becomes noticeable, so that the patient may be dependent on the help of other people in everyday life. The ribs are also affected by anomalies and the patient often suffers from a cleft palate. This significantly reduces the quality of life. As the disease progresses, deafness and various heart defects also occur.
These can also significantly reduce life expectancy. The mental development of the patient is usually unaffected by the Klippel-Feil syndrome, so that no further symptoms or complications arise. As a rule, no causal treatment of the Klippel-Feil syndrome is possible. However, the symptoms can be reduced with the help of various therapies. Furthermore, psychological treatment of the patient and his parents is necessary in many cases.
When should you go to the doctor?
If typical symptoms of the Klippel-Feil syndrome are noticed, a clarification by the family doctor or an orthopedist is indicated. If you experience symptoms such as headaches, neck pain, nerve pain or migraines, you should always seek medical advice. This also applies to symptoms of the auditory canals or the urinary tract. Malformations in the urinary tract, deafness and hearing problems must be clarified in any case. If a visible hump or other misalignment forms, medical advice is also required. People who suffer from another joint disease are best informed by the doctor responsible.
Ideally, the Klippel-Feil syndrome is diagnosed early and treated immediately, because this is the only way to rule out serious complications. If you have pain at rest, deformities and emotional problems, you must go to a specialist. The family doctor is the first point of contact and, depending on the type and severity of the symptoms, will consult other specialists and, if necessary, refer the patient to a therapist. The surgical treatment of the malformations takes place in the hospital.
Treatment & Therapy
Therapy of the cause of the Klippel-Feil syndrome is not possible. For this reason, treatment is symptomatic. For this purpose, physiotherapy and manual therapy are carried out, through which the supporting muscles of the spine and neck are improved. This in turn can alleviate the symptoms. The physiotherapy exercises are particularly useful for deformities of the spine. These are measures to strengthen muscles and improve posture.
In the case of severe pain, spinal injections can also be administered. If there is significant instability of the vertebral joints, a surgical intervention can also be useful. If there is severe hypermobility in a vertebral segment, it is recommended to limit everyday activities and avoid jerky, stressful movements so that the spinal cord is not impaired.
If the malformation is only minor, there is usually no need for treatment at all. In this way, the affected children can lead a relatively normal life. If the symptoms appear in adulthood, conservative treatment is usually sufficient. The risk of complications is primarily in the case of accompanying malformations that are not recognized.
Outlook & Forecast
After the diagnosis of Klippel-Feil syndrome, an individual therapy must be developed depending on the type and severity of the condition. It is best for the patient to contact a specialist and a therapist for this purpose. The prognosis is generally good if the condition is recognized and treated early. The deformation of the spine is treated with exercises from the field of physiotherapy. Consistent training can improve posture and strengthen muscles. After an introduction by the specialist, the patient can carry out these exercises at home, thereby improving the chances of recovery. Sporting activities in the form of swimming, walking or water aerobics also help.
In addition, there are pain-relieving remedies from homeopathy. In the case of minor malformations, no therapy is sometimes necessary. The suffering does not progress and does not severely limit the quality of life. The patient then only has to carry out the suggested exercises and have the course of the disease monitored by a specialist. Accompanying medical treatment is necessary in any case.
If unforeseen complications occur, the best thing to do is call the medical emergency service. In the case of the Klippel-Feil syndrome, falls and muscle cramps can occur, which must be treated by a doctor. Aids such as crutches and handles in the household reduce the risk potential and thus improve the prognosis.
Unfortunately, it is not possible to effectively prevent the Klippel-Feil syndrome. The syndrome is a disease that is genetically determined. However, the symptoms can be positively influenced by exercising physiotherapeutic measures.
In most cases, those affected with the Klippel-Feil syndrome have no special or direct follow-up measures available, so that a visit to a doctor is primarily necessary for this disease. Only an early diagnosis can prevent further complications and symptoms, so ideally the person concerned should consult a doctor at the first sign of the disease.
In most cases, the patient with the Klippel-Feil syndrome is dependent on physiotherapy or physical therapy. This can alleviate many of the symptoms. The person concerned can also repeat the exercises at home and thereby possibly speed up the treatment. It is also important to ensure that the back is in the correct position so that the symptoms are not aggravated.
Likewise, obesity should be avoided with the Klippel-Feil syndrome, as this can have a negative effect on the symptoms. The sufferer should follow a healthy lifestyle with a healthy diet. In children, parents should control the style and posture of the back. As a rule, no further follow-up measures are necessary for the Klippel-Feil syndrome. The life expectancy of those affected is usually not reduced by this disease.
You can do that yourself
If a Klippel-Feil syndrome has been diagnosed, the treatment steps must be worked out together with a specialist and a therapist. Therapy for spinal deformity includes exercises to strengthen muscles and improve posture.
In addition to physiotherapy, which is usually initiated routinely, those affected can do many exercises at home. Regular exercise, especially gentle sports such as swimming or walking, relieves the symptoms and promotes mobility in the neck and spine. In addition to the prescribed painkillers, light natural or homeopathic medicines can be used, provided the doctor allows it. If there are only minor malformations, sometimes no therapy is required at all. The affected child then only has to maintain a healthy, sporty lifestyle to prevent the postural damage from progressing. If the symptoms only appear in adulthood, physiotherapy measures are indicated.
The most important measure that those affected can take themselves is regular check-ups by a specialist. If serious complications arise, medical advice is required. The Klippel-Feil syndrome can generally be treated well, insofar as the person concerned puts in “work” and strives for good posture and a strong body.