Symptoms:

• Coarse facial features
• Large head (macrocephaly)
• Knock-knees
• Widely spaced teeth
• Bell-shaped chest with ribs flared out at the bottom
• Short stature with a particularly short trunk
• Hypermobile joints
• Abnormal development of bones, including the spine

Signs and tests:

The doctor will perform a physical examination. Examination and testing may reveal:

• Abnormal curvature of the spine (kyphoscoliosis)
• Cloudy cornea
• Heart murmur (aortic regurgitation)
• Inguinal hernia
• Liver enlargement
• Loss of nerve function below the neck
• Short stature (especially short trunk)

Urine tests are usually done first. These tests may show extra mucopolysaccharides, but they can't determine the specific form of MPS.

Other tests may include:

• Blood culture
• Echocardiogram
• Genetic testing
• Hearing test
• Slit-lamp eye exam
• Skin fibroblast culture
• X-rays of the long bones, ribs, and spine

Persons with Morquio syndrome should have MRI of the lower skull and upper neck to determine if the upper vertebrae are underdeveloped.