Klippel-Feil syndrome is a rare malformation. Primarily, the cervical spine is affected by the condition.
What is Klippel-Feil syndrome?
In medicine, Klippel-Feil syndrome is also known as congenital cervical spine synostosis. This refers to a congenital, rarely occurring malformation of the cervical spine that may be associated with other malformations. Klippel-Feil syndrome was named after the French neurologists Maurice Klippel and Andre Feil. The two physicians first described the faulty segmentation of the cervical spine in 1912, and it was not uncommon to see a connection between the syndrome and a short neck, limited neck mobility, and a low neck hairline. However, only 34 to 74 percent of all patients suffered from these manifestations. In Klippel-Feil syndrome, at least two cervical vertebrae shift. Likewise, displacement of the entire cervical spine is possible. The frequency of the syndrome is 1:50000, which makes it one of the rare diseases.
Causes
Klippel-Feil syndrome develops in early pregnancy. In this case, the cervical somites, special embryo parts, do not mature properly or do not develop normally. However, it has not been possible to date to explain what causes this developmental disorder. The manifestation of Klippel-Feil syndrome varies widely, ranging from mild, harmless manifestations to massive malformations. A typical feature of Klippel-Feil syndrome is the fusion of several vertebrae in the neck region. The fusion of vertebrae often results in a deep hairline. In addition, the patient may have a short, crooked neck, a misalignment of the head, and a stiff neck. It is not uncommon, however, for patients to have a good range of motion. Depending on how pronounced the bony adhesions are, those affected suffer from complaints that primarily affect the mobility of the cervical spine. However, other joints partially compensate for the lack of mobility, which sometimes leads to overmobility. Because the overmobile spinal segments lack stability, spondyloarthritis, instability at the spinal joints, or spinal cord injuries are within the realm of possibility.
Symptoms, complaints, and signs
Typical symptoms of Klippel-Feil syndrome include neck pain, headaches, migraines, nerve pain, and limited range of motion. This is due to abnormal vertebral deformations. These cause mechanical irritation of the exiting nerve roots. Similarly, myelopathy can occur due to congenital spinal canal stenosis. However, the symptoms of Klippel-Feil syndrome usually vary from individual to individual. These include anomalies of the ribs, an elevation of the scapula (Sprengel’s deformity), disorders of finger development, a deeply curved spine such as a scoliosis or kyphosis, dental anomalies, an open back (spina bifida), and a cleft palate. In some affected individuals, a hump even forms, which can also lead to a lateral curvature. Furthermore, paralysis of the eye muscles (Duane syndrome), deafness as well as malformations of the urinary tract or the heart are conceivable. In numerous patients, the symptoms do not become apparent until adulthood.
Diagnosis and course of the disease
Klippel-Feil syndrome is most often diagnosed in adults. Diagnosis is made by clinical examination. In addition, the cervical spine is visually imaged during an x-ray examination. Imaging in two planes allows the examining physician to determine the manifestation and exact position of the syndrome. Computed tomography (CT) or magnetic resonance imaging (MRI) are complementary examination options. The latter is primarily recommended for young children because the radiation exposure is lower with this method. In addition, spinal cord damage can be detected with this procedure. When diagnosing Klippel-Feil syndrome, it is also important to make a differential diagnosis. For example, other malformations of the cervical spine may also be responsible for the symptoms. The course of Klippel-Feil syndrome usually varies greatly. The extent of the complaints depends on the fusion of the vertebrae.Possible consequential damages are also of importance. A cure for the slowly progressing disease is not possible. The older the patient gets, the more the spinal complaints intensify. However, the prognosis of life expectancy is basically good.
Complications
Klippel-Feil syndrome causes significant discomfort in various areas of the body. Primarily, pain occurs 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 occur at night in the form of pain at rest, leading to sleep complaints. Furthermore, movement restrictions become 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 malformations of the heart also occur. These can also significantly limit life expectancy. The patient’s mental development is usually unaffected by Klippel-Feil syndrome, so there are no further symptoms or complications. As a rule, no causal treatment of Klippel-Feil syndrome is possible. However, the symptoms can be limited with the help of various therapies. Furthermore, psychological treatment of the patient and his parents is necessary in many cases.
When should one go to the doctor?
If typical symptoms of Klippel-Feil syndrome are noticed, clarification by the family doctor or an orthopedist is indicated. If symptoms such as headaches, neck pain, nerve pain, or migraines develop, medical advice should always be sought. This also applies to symptoms of the auditory canals or the urinary tract. Deformities of the urinary tract, deafness and hearing problems must be clarified in any case. If a visible hump or other deformity develops, medical advice is also required. People suffering from any other joint disease are best advised to inform the medical professional in charge. Ideally, Klippel-Feil syndrome should be diagnosed early and treated promptly, as this is the only way to rule out serious complications. With rest pain, malformations and mental complaints must go to a specialist. The family doctor is the first point of contact and, depending on the nature and severity of the symptoms, will consult other specialists and refer the patient to a therapist if necessary. Surgical treatment of the malformations takes place in the hospital.
Treatment and therapy
It is not possible to treat the cause of Klippel-Feil syndrome. For this reason, symptomatic treatment is given. For this purpose, physiotherapy as well as manual therapy is undertaken, through which the holding muscles of the spine and neck are improved. This, in turn, can alleviate the symptoms. Physiotherapy exercises are used especially in the case of deformations of the spine. These are measures to strengthen the muscles as well as to improve the posture. In case of severe pain, it is also possible to administer spinal injections. If there is significant instability of the vertebral joints, surgical intervention may also be appropriate. If there is severe hypermobility in a vertebral segment, it is recommended to limit activities of daily living and avoid jerky, weight-bearing movements to avoid affecting the spinal cord. If the deformity is only minor, there is usually no need for therapy at all. Thus, the affected children can lead a relatively normal life. If the symptoms appear in adulthood, conservative treatment is usually sufficient. The risk of complications exists primarily with accompanying malformations that are not recognized.
Outlook and prognosis
After the diagnosis of Klippel-Feil syndrome, an individual therapy must be worked out depending on the type and severity of the condition. For this, the patient is best to contact a specialist and a therapist. The prognosis is generally good, provided that the condition is recognized and treated at an early stage. The spinal deformity is treated by exercises from the field of physiotherapy. Consistent training can improve posture and strengthen muscles.After an introduction by the specialist, the patient can perform these exercises himself at home and thereby improve the prospects for recovery. Sporting activity in the form of swimming, walking or water gymnastics also help. In addition, pain-relieving homeopathic remedies can be used. In the case of minor deformities, sometimes no therapy is necessary. The condition does not progress and does not severely limit the quality of life. In such cases, the patient only needs to perform the suggested exercises and have the course of the disease monitored by a specialist. Accompanying medical treatment is necessary in any case. Should unforeseen complications arise, it is best to alert the emergency medical service. Klippel-Feil syndrome can lead to falls and muscle spasms that require medical attention. Assistive devices such as crutches and grab bars in the home reduce the potential for danger and thereby improve the prognosis.
Prevention
Unfortunately, it is not possible to effectively prevent Klippel-Feil syndrome. For example, the syndrome is a disease that is genetic. However, by practicing physiotherapeutic measures, the symptoms can be positively influenced.
Aftercare
In most cases, no special or direct measures of aftercare are available to the affected person in Klippel-Feil syndrome, so that a visit to a physician is primarily necessary for this disease. Only early diagnosis can prevent further complications and symptoms, so ideally the affected person should see a doctor at the first signs of the disease. In most cases, the patient with Klippel-Feil syndrome is dependent on physiotherapy or even physical therapy. This can alleviate many of the symptoms. Likewise, the affected person can repeat the exercises at home and thereby possibly accelerate the treatment. Attention should also be paid to a correct posture of the back, so that the complaints are not aggravated. Likewise, with Klippel-Feil syndrome, excess weight should be avoided, as this can have a negative effect on the symptoms. The affected person 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 Klippel-Feil syndrome. Also, the life expectancy of the affected person is usually not reduced by this disease.
What you can do yourself
If 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 physical therapy, which is usually routinely initiated, sufferers can perform many exercises at home. Regular exercise, especially gentle sports such as swimming or walking, relieves discomfort and promotes mobility of the neck and spine. Light medicines from nature or homeopathy can be used to accompany the prescribed painkillers, insofar as the doctor allows this. If only minor malformations are present, sometimes no therapy at all is necessary. The affected child then only needs to maintain a healthy, athletic lifestyle to prevent the postural defects from progressing. If the complaints do not occur until adulthood, physiotherapeutic measures are indicated. The most important measure that affected persons can take themselves is regular check-ups by a specialist. Should serious complications develop, medical advice is required. Klippel-Feil syndrome can generally be treated well, insofar as the affected person puts in “work” and strives to maintain good posture and a strong body.