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What is Morquio Syndrome?

  • A mucopolysaccharide storage condition
  • There are two subdivisions of Morquio - Morquio Syndrome A and Morquio Syndrome B
  • Deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively are the cause 
  • Results in dwarfism due to abnormal skeletal development
  • Estimated to be between 1 in 200,000

Diagnosis of Morquio Syndrome

  • Before birth by:  
    • Testing methods: genetic and enzyme
  • After birth by:
    • Observation of common physical characteristics
    • Urine Test
    • Enzyme test

What are common characteristics of Morquio Syndrome?

  • Short stature and short neck (caused by flat vertebrae)
  • Bell-shaped chest with ribs flared out at the bottom
  • Coarse facial features
  • Hypermobile joints
  • Knock-knees
  • Large head
  • Widely spaced teeth
  • Moderate kyphosis or scoliosis

*Please be aware, not all of the characteristics may be present*

Other information about Morquio Syndrome

  • Life span can possibly be affected
  • Morquio Syndrome can possibly be treated by enzyme replacement therapy
  • Intelligence is not often affected

Genetics of Morquio Syndrome

  • Passed on by both parents (recessive)

Dwarfism Genetics Morquio mutation recessive

Additional reading about Morquio Syndrome

Other organisations supporting Morquio Syndrome

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