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Klippel-Feil syndrome

by Alike Medical Team ∙ Updated on June 13, 2023

General

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.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

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