Morquio syndrome

Alternative Names

Mucopolysaccharidosis type IVA; Galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis type IVB; Beta galactosidase deficiency; MPS IV

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

Exams 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.

References

National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 03-5115. February 13, 2007.