What is Klippel-Feil Syndrome ? Klippel-Feil Syndrome is characterized by the set of symptoms presented due to congenital fusion of any 2 of the seven cervical vertebrae.
Cause(s) : Congenital fusion of any 2 of the seven cervical vertebrae (bones of the neck)
Symptoms :
Shortness of neck, limited ability to move the neck
Spina bifida
Respiratory problems
Heart Malformations
Short stature
Scoliosis
Abnormalities of head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs and fingers.
Shortened life expectancy (average 35 to 45 years of age)
Diagnosis and Tests : Diagnosis is based on the clinical presentation
Specialist to consult : Pediatrics
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