Morquio syndrome

Morquio syndrome is an autosomal recessive mucopolysaccharidosis (MPS), type IV.

Incidence estimated at ~1:40,000.

Many cases present at ~2 years of age and have normal intelligence. Clinical features:

  • severe dwarfism (<4 foot)
  • joint laxity
  • corneal opacification/clouding
  • lymphadenopathy
  • progressive deafness
  • spinal kyphoscoliosis
  • prominent mandible and lower face 
  • short neck

It results from an excess of keratan sulphate from a deficit in its degradation pathway. Keratan sulphate accumulates in various tissues inclusive of cartilage, the nucleus pulposus of the intervertebral disc and cornea.

  • metaphyseal flaring in long bones
  • multiple epiphyseal centres
  • wide metacarpals with proximal pointing, irregular carpal bones 
  • short and wide tubular bones
  • proximal point of index to little finger metacarpal
  • flattened femoral epiphyses; risk of lateral subluxation and dislocation
  • coxa valga
  • genu valgum
  • anterior sternal bowing, increased AP chest diameter, wide ribs
  • late onset aortic regurgitation

Life expectancy ranges between 30-40 years. The most common cause of death is cervical myelopathy from C2 abnormality. Patients are also particularly vulnerable to respiratory infection.

Named after Luis Morquio, an Uruguayan paediatrician (1867-1935) 5.

Inborn errors of metabolism
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Article information

rID: 10409
Section: Syndromes
Synonyms or Alternate Spellings:
  • Morquio syndrome
  • Morquio disease
  • Morquio's disease

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Cases and figures

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    Case 1: showing wide proximal pointing metacarpals
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