Klippel-Feil Syndrome is a rare condition in which two or more neck (cervical) vertebrae develop in such a way that they join. This ailment is unusual and is genetic in nature, occurring in newborns at a rate of in 1/40,000 worldwide. The vertebral fusion that is present at birth causes three major structural abnormalities: a shortened neck with a significantly reduced range of motion, and a low hairline behind the head. Individuals with this disorder often have one or two of these attributes, and fewer than half of those diagnosed with the problem have all three traits. Klippel-Feil Syndrome is often progressive because of worsening spinal changes.
Some of the most common problems people with Klippel-Feil Syndrome experience are:
Individuals with Klippel-Feil Syndrome can have other non-spinal issues, such as vision or hearing difficulties, cleft palate, and genitourinary, lung, or heart defects. Some experience additional skeletal problems including a difference in arm or leg length.
Klippel-Feil Syndrome is diagnosed with x-rays of the whole spine, with an MRI performed to detect any possibility of neurological issues or spinal stenosis. Other exams performed may consist of a chest wall evaluation, kidney ultrasound, hearing assessment, and different lab tests.
Unfortunately, there is no cure for Klippel-Feil Syndrome currently, so treatment centers on control and management of an individual’s unique symptoms. Specialists are often involved to ensure that related problems are not overlooked. Therapy is based on the conservative measures of pain medication, physical therapy, and bracing when needed. Surgery may be necessary for individuals experiencing spinal stenosis, scoliosis, neurologic impairment, or skeletal deformities.
If you are experiencing chronic headaches, muscle pain in your neck or back, or a loss of sensation in your arms or legs and would like information about treatment options we can provide; please contact us at our New Braunfels or Seguin offices.