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Morquio syndrome

Alternative Names: Mucopolysaccharidosis type IVA (galactosamine-6-sulfatase deficiency); Mucopolysaccharidosis type IVB (beta galactosidase deficiency) Symptoms: 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 Signs and tests: 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 Text Continues Below 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

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