Morquio Syndrome

What is it? (facts)

• Morquio's syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or Morquio)[1] is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited.[2]:544 It is a rare type of birth defect with serious consequences. In the US, the incidence rate for Morquio is estimated at between 1 in 200,000 and 1 in 300,000.[1]
• Thecondition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935),[4] a prominent Uruguayan physician who discovered it in Montevideo, and James Frederick Brailsford (1888–1961), an English radiographer in Birmingham, England.[5][6] They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in four siblings in a family of Swedish extraction and reported his observations in French.

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SYMPTOMS

• Abnormal heart development Abnormal skeletal development Hypermobile joints Large fingers Knock-knees Widely spaced teeth Bell-shaped chest (flared ribs) Compression of spinal cord Enlarged heart Dwarfism Heart murmur below average height for certain age Patients with Morquio's syndrome appear healthy at birth.[1] They often present with spinal deformity, and there is growth retardation and possibly genu valgum in the second or third year of life. A patient with Morquio's syndrome is likely to die at an early age. Other signs and symptoms of the disease may include: Short stature and short neck (caused by flat vertebrae) Moderate kyphosis or scoliosis Mild pectus carinatum ("pigeon chest") Cervical spine: odontoid hypoplasia, atlanto-axial instability; may be associated with myelopathy with gradual loss of walking ability Joint laxity, mild dysostosis multiplex, dysplastic hips, large unstable knees, large elbows and wrists, and flat feet The combined abnormalities usually result in a duck-waddling gait Mid-face hypoplasia and mandibular protrusion Thin tooth enamel Corneal clouding Mild hepatosplenomegaly

Morquio syndrome is not something to joke around with!!!