Morquio Syndrome is typically not recognized at birth. Onset does not occur until the second to fourth year of life. The most frequently recognized symptoms include gait disturbance and growth deficiency.
Diagnostic procedures include flexion-hyperextension radiographs of the cervical spine and/or MRI of the cervical or thoracolumbar spine.
To confirm the diagnosis, two-dimension electrophoresis or thin-layer chromatography of isolated urinary glycosaminoglycans is employed.
Heterozygote detection is possible.
Prenatal recognition can be done using amniotic fluid cells and chorionic villi.