Klippel-Feil syndrome is the fusion of two or more cervical vertebrae which is present from birth. This disease causes a limited range of motion in the neck and the appearance of a shorter neck. Individuals with Klippel-Feil may also have skeletal problems in other parts of the body including unequal limb lengths (resulting in misalignment, especially of the hip or knees) and underdeveloped shoulder blades (Sprengel deformity).
Klippel-Feil syndrome is caused by a genetic mutation and is inherited in an autosomal dominant pattern, which means that if one copy of the mutated gene is present in each cell, then an individual will have the disease. The only exception is when the MEOX1 gene is affected, in which case it is inherited in an autosomal recessive pattern, where both copies of the gene must be mutated in order to an individual to have Klippel-Feil syndrome (https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome).
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