Morquio Syndrome
Symptoms
Knock knees (Knees turning inward)
Scoliosis (Extreme spine curve)
enlarged liver
short torso
big head
diagnosis
x ray
genetic testing
Can tell if there are knock knees or scoliosis
finds abnormal DNA through blood
finds abnormal DNA through saliva
Skin fibroblast culture
piece of skin is removed
Piece of skin is tested to see how the skin substances are doing
cause
types
type B
type A
galactosamine-6-sulfatase is missing
There isn't enough of beta-galactosidase
Morquio Syndrome is inherited
Both parents must have the gene