Morquio syndrome

• Family history of Morquio syndrome
• Coarse facial features (more mild than either Hunter or Hurler syndrome )
• 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 many bones including the spine
• Compression of the spinal cord can lead to weakness or paralysis

Physical examination and testing shows:

• Cloudy cornea
• Liver enlargement
• Inguinal hernias
• Kyphoscoliosis (abnormal curvature of the spine)
• Short stature (especially short trunk)
• Aortic regurgitation (heart murmur)
• Loss of nerve function below the neck

Tests:

• X-ray of the long bones
• X-ray of the ribs
• X-ray of the spine shows abnormal vertebrae and osteoporosis
• Urine chemistry, keratosulfate or chondroitin sulfate may be increased
• Culture of skin fibroblasts or white blood cells for deficient galactosamine-6-sulfatase or beta galactosidase enzyme activity
• Hearing test
• Slit-lamp eye exam for abnormal deposits in cornea
• Echocardiogram may show thickened heart valves
• Genetic testing may be available

Email this page  Printer friendly  Bookmark this page