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)
Additional reading about Morquio Syndrome
- National Organisation for Rare Disorders (NORD) - Morquio Syndrome
- Medline Plus
- WebMD
- LPA Online - Morquio Syndrome
- Kids Health
- Understanding Dwarfism
Other organisations supporting Morquio Syndrome
*Little People UK are not responsible for external website*
