Synonyms: congenital cervical synostosis
The so-called Klippel-Feil Syndrome denotes a innate Malformation, especially the Cervical spine concerns. The main feature is one Adhesion from Cervical vertebrae that may be associated with other malformations.
The Klippel-Feil syndrome was first fully described in 1912 by Maurice Klippel, a French neurologist and psychiatrist, and André Feil, also a French neurologist, and named after them.
The frequency with which this syndrome occurs is determined with 1:50000 indicated, so it belongs to the rarer ones Diseases.
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The cause of this disease already lies in the Early pregnancywhen certain parts of the embryo's tissue, the so-called cervical somitesdo not mature properly or do not develop as usual. It is still not clear why this developmental disorder occurs at all. The expression of this syndrome is extremely different and can be completely harmless and be barely visible or with severe malformations accompanied.
The Klippel-Feil syndrome is characterized by the merger of two or more Vertebral bodies of the neck area. In some cases the entire cervical spine can be fused together. Characteristic are also one deep hairline and as a result of the vertebral growth a very short neck With Neck stiffening and a Incorrect posture of the head, a Torticollis, also called torticollis osseus. These typical clinical signs, however, are only found in 34 – 74 % the patient, as the range of motion is often well preserved.
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The bony adhesions can lead to discomfort depending on their severity. The mobility of the cervical spine may be severely restricted. However, the lack of mobility is partly compensated for by other vertebral joints that are between, above or below the adhesions, which then often overmobile are. However, this also means that the overmobile regions of the spine are less stabilized, which is why serious problems can arise in these areas, such as an injury to the Backmarks in the neck area, instability or one Spondylarthrosis (degenerative changes in the vertebral arch joints). If the first cervical spine joint between the skull bones and the so-called Atlas bones fused, this malformation causes more discomfort than lower-lying joints.
$config[ads_text2] not foundCharacteristic symptoms are Restriction of movement, a headache, Predisposition to migraine, Neck pain and Nerve paincaused by abnormal formation of the vertebrae, which then mechanically stimulate the emerging nerve roots, or by mostly congenital narrowing of the Spinal canal, a so-called Myelopathy.
In addition, there are numerous associated with it Malformations and symptoms. So there can be other bony abnormalities, like one Shoulder blade elevation (Sprengel's deformity), Rib abnormalities, disturbed Finger development, as well as a deeper curvature of the spine, like a pronounced one Kyphosis or even one Scoliosiswhich must also be treated in good time.
Other abnormalities can occur in a Cleft lip and palate, Dental disorders, a so-called Spina bifida, Eye muscle paralysis (Duane Syndrome) or incorrect placement of the ear with accompanying deafness consist.
They are also characteristic Deformities of Heart or des Urinary tract, which is why when diagnosing Klippel-Feil syndrome always one Ultrasonic of the urinary tract should be done, as these malformations can be asymptomatic at the beginning.
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However, many patients in whom the diagnosis is not obvious do not experience symptoms and a diagnosis until adulthood. The Klippel-Feil syndrome is diagnosed by means of a clinical examination and, for a precise representation of the cervical spine, an X-ray examination in 2 planes in order to be able to see the exact location and extent of the malformation.
In addition, an MRI of the cervical spine is often done (preferable to CT in small children because of the radiation exposure) or CT to determine possible damage or constriction of the spinal cord and to discover associated anomalies.
Unfortunately, the Klippel-Feil syndrome cannot be treated causally. Therapy is usually smptomatic in the form of physiotherapy to strengthen the holding muscles and alleviate symptoms. In worse cases, spinal injections can be used in the case of severe pain or, in very specific cases with severe instability in a vertebral joint, surgery may be indicated. Patients with pronounced overmobility in some vertebral segments should in any case limit their everyday activities and not perform any jerky movements that put a lot of strain on the cervical spine, in order not to provoke damage to the spinal cord.
The prognosis is extremely different and depends a lot on the individual Disease expression and already occurred Consequential damage from. However, the cause of the Klippel-Feil syndrome cannot be treated. Also, the complaints usually take place in the frame degenerative changes the spine increases with age. In terms of life expectancy, Klippel-Feil syndrome has a good prognosis, and most patients can lead largely normal lives. Surgery is very rarely necessary. Unrecognized accompanying malformations, however, can become serious Complications to lead.
