Klippel–Feil syndrome

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Klippel–Feil Syndrome

Klippel–Feil syndrome (pronounced: klip-EL fyle SIN-drome) is a rare, congenital condition characterized by the fusion of any two of the seven cervical vertebrae. It is named after the two French physicians, Maurice Klippel and André Feil, who first described this condition in 1912.

Etymology

The term "Klippel–Feil" is derived from the names of the two French physicians who first identified the syndrome. Maurice Klippel and André Feil described the condition in a paper published in 1912. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence."

Symptoms

The symptoms of Klippel–Feil syndrome can vary greatly among individuals. Some people may have no symptoms, while others may experience severe neurological complications. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Other associated conditions can include Sprengel's deformity, scoliosis, and hearing loss.

Diagnosis

Diagnosis of Klippel–Feil syndrome is typically made through a combination of physical examination and imaging studies, such as X-ray or MRI. Genetic testing may also be performed to identify any underlying genetic mutations.

Treatment

Treatment for Klippel–Feil syndrome is typically focused on managing symptoms and preventing complications. This may include physical therapy, pain management, and in some cases, surgery.

Related Terms

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