What is Klippel-Feil Syndrome? | Dr. Andrew Cash, MD Las Vegas, Nevada

 

By Brooke Strickland and Dr. Andrew Cash

 

Klippel-Feil Syndrome is a rare disease that is present at birth, but sometimes can be diagnosed later in life when symptoms first become more apparent.  The syndrome causes two or more spinal bones in the neck to fuse or join together, which means the person living with the disorder will have a short neck, have limited head or neck movement, or low hairline at the back of the head.  It’s common that patients with this disorder also have other congenital abnormalities like scoliosis, heart defects, kidney disease, spina bifida, or other skeletal malformations. 

The disease usually happens when genetic mutations occur, other times it presents itself with for an unknown cause and no abnormalities present.

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