Symptoms
Characteristic symptoms are restricted movement, headache, predisposition to migraine, neck pain and nerve pain caused by abnormal shaping of the vertebrae, which then mechanically irritate the emerging nerve roots, or by mostly congenital narrowing of the spinal canal, a so-called myelopathy. In addition, there are numerous associated malformations and symptoms. There may be other bony abnormalities, such as a high shoulder blade (Sprengel’s deformity), rib anomalies, disturbed finger development, as well as a deeper curvature of the spine, such as a pronounced kyphosis or even scoliosis, which must be treated in time.
Other abnormalities can be a cleft lip and palate, dental disorders, a so-called spina bifida, paralysis of the eye muscles (Duane syndrome) or faulty positioning of the ear with associated deafness. In addition, malformations of the heart or the urinary tract are characteristic, which is why an ultrasound of the urinary tract should always be performed when diagnosing Klippel-Feil syndrome, since these malformations can be asymptomatic at the beginning. However, many patients in whom the diagnosis is not obvious do not develop symptoms and receive a diagnosis until adulthood.
Klippel-Feil Syndrome is diagnosed by means of clinical examination and, for an exact representation of the cervical spine, by means of a 2-plane X-ray examination in order to be able to see the exact location and extent of the malformation. In addition, an MRI of the cervical spine (especially in small children preferable to CT because of the radiation exposure) or CT is often performed to determine possible damage or narrowing of the spinal cord and to detect associated abnormalities. Unfortunately, Klippel-Feil Syndrome cannot be treated as the cause. Therapy is usually symptomatic in the form of physiotherapy to strengthen the holding muscles and relieve symptoms.In worse cases, spinal injections may be used for severe pain, or in very specific cases with severe instability in a vertebral joint, surgery may even be indicated. Patients with pronounced hyper-mobility in some vertebral segments should in any case restrict their everyday activities and refrain from jerky movements that put a lot of strain on the cervical spine, in order not to provoke damage to the spinal cord.
