Klippel-Feil syndrome
What is it?
Klippel-Feil syndrome is a rare disorder characterized by abnormal fusion of two or more cervical vertebrae. It may lead to nerve problems in the area, shortened neck, and pain. Complications may include osteoarthritis around the areas of fused bone. Many of the people who have this syndrome may also suffer from scoliosis. The syndrome may involve other organs such as the ears, eyes, palate, the genitourinary system, heart, and lungs. It is caused due to mutation in several genes.
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Signs & symptoms
Symptoms include short neck, low hairline at the back of the head, limited range of motion in the neck, chronic headaches, muscle pain in the neck and back.
Diagnosis
Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include imaging tests and genetic testing.
Treatment
Treatment depends on the symptoms and may include surgical treatment to relieve the cervical instability and constriction of the spinal cord and to correct scoliosis.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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