Morquio syndrome
Morquio syndrome Causes
A deficiency in the enzyme N-acetylgalactosamine-6-sulfate sulfatase causes Type A Morquio syndrome.
Morquio syndrome Definition
Referred to as mucopolysaccharidosis IV or Morquio, the disorder is known to be an autosomal recessive mucopolysaccharide disease that is usually inherited. It is also considered a relatively rare case of dwarfism with serious consequences. This happens when the body cannot process certain types of mucopplysaccharides, then they just build up or are eliminated causing a range of symptoms. The type A form is a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase.
Morquio syndrome Diagnosis
Physical examination may reveal abnormal curvature of the spine or kyphoscoliosis, cloudy cornea, heart murmur, inquinal hernia, liver enlargement, loss of nerve function below the neck and short stature. Other tests may also include blood culture, echocardiogram, genetic testing, hearing test, slit-lamp eye exam, skin fibrolast culture and x-rays of the long bones, ribs and spine.
Morquio syndrome Symptoms and Signs
Morquio syndrome has an assortment of symptoms. Among them are abnormal heart development, abnormal skeletal development, hypermobile joints, large fingers, knock-knees, widely spaced teeth, large head, bell shaped chest, compression of spinal cord, enlarged heart, and dwarfism.
Morquio syndrome Treatment
Presently, there are only palliative measures available to treat Morquio syndrome patients. Many physicians also recommend cervical spine fusion to affected patients since all of those with the disorder have odontoid hypoplasia that can lead to atlanoaxial subluxation.